This patient is in serious condition. The trismus and fever suggest a deep cervical space infection and that is not a game because the airway can become obstructed. Knowing this, options 1, 2 and 5 are out of place and I am left with 3 and 4. There may already be mediastinitis; after all, that is the natural history of cervical deep space infections, but answer 4 is more correct and besides, we are in the ENT block, the airway specialty. I like this question because it requires knowledge that is important in clinical practice.

This patient is in serious condition. The trismus and fever suggest a deep cervical space infection and that is not a game because the airway can become obstructed. Knowing this, options 1, 2 and 5 are [HIDDEN] and I am left with 3 and 4. There may already be mediastinitis; after all, that is the natural history of cervical deep space infections, but answer 4 is [HIDDEN] and besides, we are in the ENT block, the airway specialty. I like this question because it requires knowledge that is important in clinical practice.

Given a patient with poor general condition, fever (axillary temperature 39.5º), bilateral submandibular swelling of six days' evolution, mouth pain and trismus, which of the following statements is correct?

The first diagnostic probability is carcinoma of the floor of the mouth with bilateral cervical metastases.

The therapeutic priority is to ensure the patient's nutrition.

We are almost certainly facing a mediastinitis.

We must consider as a priority the risk of airway obstruction.

We must perform as a first diagnostic measure a cytology by fine needle aspiration puncture.

OTORHINOLARYNGOLOGY AND MAXILLOFACIAL SURGERY

[The value of ultrasound-controlled fine-needle biopsy in the diagnosis of possible neck tumors].

From October 1985 to July 1988 we performed a study to examine 106 patients with head and neck tumours, by using ultrasound as a guiding system for fine-needle aspiration biopsy. It could be shown that this method has a high diagnostic significance at the neck with a low rate of risks. In a first step puncture was effected to obtain material for cytology, if necessary also for a bacteriological examination. Normally, in a second step a fine-needle cutting biopsy was done to obtain histological material. The combined use of aspiration and cutting needle biopsy achieved correct tumour status in 91.5%, whereas in 73.6% the correct type of lesion was diagnosed. A false status assessment and errors in identifying the lesions occurred in 2 of 106 cases; there of was one false negative status assessment. In cases of benign neck cysts, neck abscesses and non-specific lymphadenopathy, a cutting neck biopsy is not required, provided the clinical diagnosis is in accordance with the result of aspiration cytology and the further clinical progress. The advantage of the ultrasound-guided puncture compared with palpation-guided puncture is the certainty of locating the region of interest even in deep lesions without an appreciable risk of complications. In our opinion, ultrasound-guided fine needle aspiration biopsy is indicated in all cases of unclear head and neck tumours which could be treated conservatively if the result of the puncture is non-malignant.

[Cervical node fine needle aspiration: factors influencing the failure rate].

We had for aim to study the factors influencing the rate of non satisfactory (NS) cervical node fine needle aspirations (CNFNA). We prospectively included 272 CNFNA, performed over 2 years (2010-2012). NS results were studied according to the following criteria: age, size and location of the node, number of punctures performed, and the operating physician's experience. Fifty-six (20.6%) of the 272 CNFNA were NS because they were acellular or paucicellular. The rate of NS CNFNA was not correlated with the patient's age: 63.6% for small lymph nodes (≤1 cm: P=0.01). Submandibular and jugulodigastric locations were observed in 28% of NS CNFNA and in 5% of satisfactory ones (P=0.001). The rate of NS CNFNA was 67% if 1 or 2 punctures were performed; it decreased to 18% for 3 or more punctures (P=0.01). This rate was 77% for the first study semester, and 8% for the fourth semester (P=0.001). CNFNA has been repeated for 19 patients. The second CNFNA was contributive for 14 patients. Repeating the CNFNA increased its efficiency by 73.7% (14/19). The rate of NS CNFNA depends on the size and location of the lymph node, and the operating physician's experience. Repeating the CNFNA significantly improves its efficiency.

Cervical cysts: cancer until proven otherwise?

A cystic neck mass can be either malignant or benign; 22% of patients (4/18) admitted with the tentative diagnosis of branchial cyst in a recent 2-year period (1977-1979) had metastatic carcinoma: epidermoid, thyroid or salivary gland. Preoperative fine needle aspiration was diagnostic in 1 instance and unhelpful in 2. Frozen section analysis of the gross specimen invariably provided the correct diagnosis. All patients with malignancies had subclinical primary disease and in 1 instance random biopsies identified its origin. The prudent surgeon will avoid untoward results if he approaches a neck cyst in an adult as if it were malignant. Guidelines he can follow to prevent the inadvertent removal of a metastasis under the misapprehension that it is a benign neck cyst include: 1. Prior to operation, perform a thorough head and neck examination to identify a primary carcinoma; 2. Do a fine needle aspiration of the mass for cytology. A negative report must be considered inconclusive; 3. Make a gross examination in the operating room of the opened cyst and frozen section processing of suspicious areas; 4. Follow with a panendoscopy and random biopsies of appropriate areas and complete the neck dissection on the involved side, after a metastatic deposit has been recognized. The preoperative procurement of contingency consent for these procedures is understood.

Sialadenitis

Common key diagnostic factors 1. Fever – may present with an acute infective sialadenitis or autoimmune aetiology suggestive of an infection or inflammation. 2. Pain and dysphagia (ie. difficulty swallowing) – usually unilateral affecting the parotid or submandibular regions, with worse pain during eating and swallowing. 3. Facial swelling – usually unilaterally and affecting parotid region, under the tongue, or below the jaw. May have acute onset and may have a history of repeated episodes. 4. Recurrent painful swellings – indicative of chronic recurrent sialadenitis, may have similar signs and symptoms to an acute episode. 5. Pus exudation from salivary gland openings – indicative of bacterial infection, may occur on manipulation of the affected gland or spontaneously. Other common diagnostic factors to consider

Ludwig's angina

Signs and symptoms Ludwig's angina is a form of severe, widespread cellulitis of the floor of the mouth, usually with bilateral involvement. Infection is usually primarily within the submandibular space, and the sublingual and submental spaces can also be involved. It presents with an acute onset and spreads very rapidly, therefor early diagnosis and immediate treatment planning is vital and lifesaving. The external signs may include bilateral lower facial swelling around the jaw and upper neck. Signs inside the mouth may include elevation of the floor of mouth due to sublingual space involvement and posterior displacement of the tongue, creating the potential for a compromised airway. Additional symptoms may include painful neck swelling, drooling, tooth pain, dysphagia, shortness of breath, fever, and general malaise. Stridor, trismus, and cyanosis may also be seen when an impending airway crisis is nearing.

[Necrotizing mediastinitis in deep neck infections].

Mediastinitis is a rare complication of deep neck abscesses with a high mortality. An accelerated extension to the mediastinum can happen before the identification of the primary site of infection, delaying diagnosis and treatment. To report the results of treatment of patients with mediastinitis as a complication of deep neck infection. Case series. Consecutive patients with mediastinitis secondary to deep neck abscesses, from March 2001 to February 2004. We studied five patients: three males (60%) and two females (40%), mean age 42.2 +/- 18.4 years. In all patients there was at least a 3-day delay before appropriate diagnosis was made. Hospitalization ranged between 1 and 56 days. Symptoms were fever in five cases (100%), dysphagia in four (80%), dyspnea in four (80%), retrosternal pain in three (60%), orthopnea in two (40%), and tachycardia in one (20%). Primary infection sites were of dental origin in four cases (80%) and upper respiratory tract infection in one. Surgical management consisted of cervical and mediastinal drainage with tracheotomy in all patients (100%). Three also required pleurostomy and two required gastrostomy to improve nutritional status. Mean number of surgical procedures was 5.4 +/- 1.8. All patients developed respiratory insufficiency requiring mechanical ventilation. Mortality was 60%. The delayed diagnosis was common in this case series. The length of hospitalization was long because patients required management with ventilatory support and multiple surgical procedures to limit the infectious process. High mortality is an indication for the early identification and treatment of all cases.

Submandibular space

Signs and symptoms of a submandibular space infection might include trismus (difficulty opening the mouth), inability to palpate (feel) the inferior border of the mandible and swelling of the face over the submandibular region. If the space contains pus, the usual treatment is by incision and drainage. The site of the incision is extra-oral, and usually made 2–3 cm below, and parallel to, the inferior border of the mandible. Ludwig's angina is a serious infection involving the submandibular, sublingual and submental spaces bilaterally. Ludwig's angina may extend into the pharyngeal and cervical spaces, and the swelling can compress the airway and cause dyspnoea (difficulty breathing). References Fascial spaces of the head and neck Otorhinolaryngology Oral and maxillofacial surgery Mouth

[Diagnosis and surgical treatment of metastatic cervical adenopathies].

Needle biopsy is preferable to open biopsy for several reasons; no tumor spread, no inconvenient scars hampering future surgical intervention, no delay between diagnostic procedure and definitive therapy as well as its simplicity. A conclusive histological diagnosis of malignancy is only made in 70 to 80% of the cases by this technic. In the other cases however, the macroscopic and microscopic aspect usually very strongly suggests the nature of the disease. When a definite diagnosis of malignancy cannot be made this way an open biopsy is mandatory and to be performed under general anesthesia by a surgeon who is able to proceed immediately with the appropriate surgical therapy as soon as a peroperatory positive histological diagnosis is obtained. The classical therapy consists of a unilateral or bilateral radical neck dissection with or without resection of the primary tumor. The postoperative follow-up is usually simple. The incidence of postoperative complications is higher when the cervical region has been irradiated with a dose equal or higher to 5,500 tumor rads or when the larynx, pharynx and/or buccal cavity have been entered.

A Unique Presentation of Ectopic Thyroid Tissue: Case Report and Management Principles.

Ectopic thyroid is a rare clinical presentation to encounter in day-to-day clinical practice. It occurs due to developmental defects in the early stages of the thyroid gland embryogenesis during its descent from the floor of the primitive foregut to its final pre-tracheal position. It is usually present along the extent of the thyroglossal duct as well as in distant locations such as sub-diaphragmatic or mediastinal spaces. The diverse clinical presentation of this rare entity often causes a diagnostic dilemma. A thyroid scintigraphy scan is pivotal in the diagnosis of ectopy, but ultrasonography is done more frequently. Surgical management is preferred for symptomatic cases, followed by radioactive iodine ablation and levothyroxine supportive therapy for refractory cases. We present a case of a 62-year-old female patient who presented with pain and swelling of the right submandibular region. On ultrasonography, a 5*4 cm firm mobile swelling of the right submandibular region was found, suggestive of right submandibular sialadenitis. Fine needle aspiration cytology (FNAC) was subsequently done, and it showed features of basaloid neoplasm like pleomorphic adenoma, and as the thyroid tissue was in an ectopic location, it must have been misdiagnosed. The patient was then taken up for right submandibular sialoadenectomy, and the histopathological examination of the operative specimen showed nodular colloidal goiter and mild chronic sialadenitis. Ectopic thyroid can present at various anatomical locations and thereby has varied clinical presentations which makes it a diagnostic dilemma for clinicians. The usual radiological investigations done include USG and CT scan, whereas thyroid scintigraphy is more precise in reaching the diagnosis of ectopic thyroid. The confirmatory diagnostic method is the histopathological examination of the excised specimen. Most cases of ectopic thyroid are asymptomatic and require regular follow-up. Symptomatic cases are managed by surgical excision followed by periodic monitoring and adequate thyroxine replacement.

The value of elective neck dissection in treatment of cancer of the tongue.

The "adequate" therapy of tongue cancer has not yet been determined. The authors report their experience with 58 N(0) patients to elucidate the role of elective neck dissection in surgical treatment of cancer of the tongue. The files of 58 N(0) patients with tongue cancer were evaluated retrospectively. In every patient, partial glossectomy continuous with neck dissection was the mainstay of the treatment. TNM staging, intraoperative N staging, pathologically confirmed cervical lymph node metastases and their levels, and clinical outcomes (local and regional recurrences) were recorded. The sensitivity and specificity of intraoperative staging was determined. Fifty-four percent (31/58) of the patients presented as T(1), and 26% (15/58) as T(2). The overall occult metastasis rate was 29.3% (17/58). The occult metastasis rate for T(1) and T(2) lesions was 19.4% (6/31) and 26.7% (4/15), respectively. The sensitivity of intraoperative staging was 76.5%, and the specificity was 51.2%. The rate of occult metastasis to the neck is too high in all tongue cancer cases to take the risk of regional recurrence, and the surgeon can not solely depend on neck palpation for determination of neck metastasis. Radiologic investigations and fine-needle aspiration decrease, but never reduce to zero the rate of false-negative examination. There is an obvious indication for neck dissection, even in early cases.

Surgery_Schwartz

advanced disease with pterygoid involvement. As previously mentioned, because of the epidemic rise in incidence of oropharyngeal cancers, secondary to HPV-associated tumors, and the high regional metastatic rate for these tumors, the pre-senting symptom is often a nontender cervical lymphadenopa-thy, which should be investigated with a fine-needle aspiration (FNA) biopsy. Approximately 50% of patients have metastases at the time of diagnosis. Bilateral metastases are common in patients with soft palate and base of tongue tumors. Treatment of the neck should include the upper jugulodigastric nodes to which these tumors most commonly metastasize to, followed by levels II, IV, V, and the retropharyngeal lymph nodes.A discussion about oropharyngeal cancer cannot be had without discussing the important prognostic information pro-vided by the HPV status of these tumors. The incidence of oro-pharyngeal squamous cell carcinoma has increased significantly over the last four decades secondary

Dermoid cyst of the floor of the mouth diagnosed by fine needle aspiration cytology: a case report.

Dermoid cyst of the floor of the mouth is a rare, benign lesion requiring surgical intervention. To our knowledge, the preoperative diagnosis of this entity by fine needle aspiration (FNA) cytology has not been previously reported in the cytologic literature. The patient presented with a massive swelling of the floor of the mouth that displaced the tongue superiorly. A computed tomographic (CT) scan demonstrated a cystic lesion thought to be consistent with a lymphangioma. FNA was performed without complications and demonstrated numerous anucleated and some nucleated squames consistent with a diagnosis of dermoid cyst. Establishment of the correct diagnosis by FNA enabled the surgeon to proceed with the appropriate operation; that outcome might not have been possible had the erroneous CT diagnosis of lymphangioma been trusted. A preoperative diagnosis of dermoid cyst of the floor of the mouth was established by FNA. In contrast to reports in the older literature, the FNA procedure caused no complications. In patients presenting with lesions of the floor of the mouth, FNA should be the diagnostic procedure of first choice.

Management of Ludwig's Angina at a Tertiary Care Hospital in Western Region of India.

Introduction Ludwig's angina is cellulitis of submandibular space, submental space, and sublingual space. The main causative factors include dental infections (dental caries with atypical periodontitis, pericoronitis, and dental procedures). Other predisposing conditions include poor dental hygiene, dental caries, malnutrition, diabetes mellitus, AIDS, and various other immunocompromised states. It presents as an acute onset and spreads very rapidly causing bilateral diffuse neck swelling, edema of floor of mouth, pain, fever, trismus, foul-smelling pus discharge, difficulty in swallowing, airway edema, and tongue displacement creating a compromised airway with stridor. So it requires early diagnosis and aggressive management. Material and methods Clinical data of all patients with clinical diagnosis of Ludwig's angina managed at the Department of Otorhinolaryngology-Head and Neck Surgery, Sir Takhatsinhji (T) General Hospital and Government Medical College, Bhavnagar, India, from 2015 to 2019 were analyzed retrospectively in this study. Result Over the review period, 30 cases were diagnosed as Ludwig's angina, out of which 12 (40%) were males and 18 (60%) were females; male to female ratio was 1:1.5. The age of the patients ranged from six months to 64 years, with a mean age of 38.86 years. Fever, neck swelling, and neck pain were present in all patients. In 16 patients, incision and drainage were done under general anesthesia while the rest five patients required only local anesthesia. In six patients (20%), for maintenance of airway, tracheostomy was required. The most common complication was necrotizing fasciitis and death followed by septicemia. Mortality was observed in three patients (10%) in this study. Conclusion Despite improved outcomes compare to pre-antibiotic era, Ludwig's angina still remains a potentially life-threatening disease in ENT at present. Dental caries, uncontrolled diabetes mellitus, and malnutrition are commonly associated conditions. With early diagnosis, close airway observation, aggressive intravenous antibiotic treatment, and timely surgical intervention, morbidity, and mortality can be reduced.

Squamous carcinoma presenting as an enlarged cervical lymph node.

Patients presenting with an enlarged cervical lymph node containing squamous cell carcinoma are a difficult problem for head and neck surgeons. In most cases, the primary site lies in the head and neck region. The advent of fine-needle aspiration cytologic study means that this group of patients can be accurately identified in the clinic and investigated accordingly. The current report studies the records of 267 such patients presenting to the Head and Neck Unit at The University of Liverpool over a 29-year period. The 5-year survival rate for all patients presenting with a cervical lymph node metastasis was 27%. The 5-year survival rate for patients with a detected primary in the head and neck was 31% and the primary site was identified during the patient's life time in all but 36 patients (13%). In 53% of patients, the primary site was discovered during routine clinical examination, and in a further 16% it was discovered at panendoscopy. Most diagnostic tests proved relatively unhelpful but 10 patients in our series had the primary site discovered by radiograph and 9 of these had carcinoma of the lung. In the current study when the primary site was discovered it was in the head and neck region in 74% of patients. Primary sites other than head and neck occurred in 11% of the patients and no 5-year survivors existed. Multivariate analysis suggested that open biopsy of the lymph node metastasis appeared to have an adverse effect on survival as did advanced age and advanced N stage. The late diagnosis of the primary site, if it proved to be in the head and neck region, on the other hand, had a positive association with survival. Patients presenting with a lymph node metastasis in the head and neck region from an unknown primary have a prognosis identical to that of other patients with head and neck squamous carcinoma with neck node metastases. The prognosis for patients in whom the primary site is never discovered or in whom the primary site is not head and neck, however, is disastrous. If the primary tumor proves to be in the head and neck region, treatment is worthwhile since almost a third of patients are cured of their disease. When the primary carcinoma is not in the head and neck region, treatment must be considered palliative.

Fine needle aspiration in COVID-19 vaccine-associated lymphadenopathy.

With ongoing intensive vaccination programme against COVID-19, numerous cases of adverse reactions occur, some of which represent rare events. Enlargement of the injection site&rsquo;s draining lymph nodes is increasingly reported, but is not yet widely recognised as being possibly associated with recent vaccination. As patients at risk of a severe course of COVID-19, indicated by their medical history such as a previous diagnosis of malignancy, receive priority vaccination, newly palpable lymph nodes raise concerns of disease progression. In this case series, we report on five patients who presented with enlarged lymph nodes after COVID-19 vaccination. Sonography guided fine needle aspiration (FNA) was performed in five patients presenting with PET-positive and/or enlarged lymph nodes after COVID-19 vaccination with either the Pfizer-BioNTech or Moderna vaccine. COVID-19 vaccination had been carried out in all cases, with an interval of between 3 and 33 days prior to FNA. Three of five patients had a history of neoplasms. The vaccine was administered into the deltoid muscle, with subsequent enlargement of either the cervical, supra-, infra- or retroclavicular, or axillary lymph nodes, in four out of five cases ipsilaterally. In all cases, cytology and additional analyses showed a reactive lymphadenopathy without any sign of malignancy. Evidence of newly enlarged lymph nodes after recent COVID-19 vaccination should be considered reactive in the first instance, occurring owing to stimulation of the immune system. A clinical follow-up according to the patient&rsquo;s risk profile without further diagnostic measures is justified. In the case of preexisting unilateral cancer, vaccination should be given contralaterally whenever possible. Persistently enlarged lymph nodes should be re-evaluated (2 to) 6 weeks after the second dose, with additional diagnostic tests tailored to the clinical context. Fine needle aspiration is a well established, safe, rapid and cost-effective method to investigate an underlying malignancy, especially metastasis. Recording vaccination history, including date of injection, site and vaccine type, as well as communicating this information to treating physicians of different specialties is paramount for properly handling COVID-19 vaccine-associated lymphadenopathy.

A Clinical, Radiological, and Histopathological Correlation of Neck Nodes in Patients Undergoing Neck Dissection.

Management of neck metastases in terms of diagnosis and treatment has always been a controversial issue in patients of head and neck malignancy. The main area of debate in case of diagnosis lies with the fact that whether we should rely on ultrasound, as a diagnostic modality for diagnosing micrometastases in the neck in head and neck malignancy patients? The second controversial issue is the management of N0 neck, whether to be radical or conservative? This study was conducted on 70 diagnosed patients of head and neck carcinoma who were planned for resection of the primary. An appropriate neck dissection was performed in all the patients, and their clinical, ultrasonography, and postoperative histopathological neck findings were correlated. In our center, the most common site of the primary tumor was oral cavity with most involving buccal mucosa. As expected, T4 lesions were commonly associated with nodal metastasis (71%). The sensitivity of clinical examination and ultrasound was 80% and 93.3%, respectively, and specificity of clinical examination and ultrasound was 57% and 27.2%, respectively. Histopathologically positive but clinically nonpalpable metastases in the study group were more frequent in levels Ib, II, and III, respectively. We concluded that ultrasonography being a low cost and a highly sensitive investigation can act in tandem with clinical examination for diagnosing the neck for metastases preoperatively in head and neck malignancy patients. However, due to its low specificity, we cannot completely rely on it, hence doing a neck dissection in selective form, will definitely improve the clinical course of the disease in N0 necks.

Unusual small bone metastases from epithelial malignancies: diagnosis by fine-needle aspiration cytology with histologic confirmation.

Although epithelial malignancies can have bone metastases, involvement of small bones is exceedingly rare, representing either first manifestation of an occult carcinoma or late disseminated disease. Small bone metastases may mimic primary skeletal diseases leading to misdiagnosis and delayed treatment. We report three cases of metastatic epithelial malignancies diagnosed by computed tomography (CT)-guided fine-needle aspiration (FNA) biopsy in two patients with lytic calcaneal lesions and a patellar lesion in a third patient; all with histologic confirmation. Case 1, a 63-year-old female, presented with heel pain. FNA and tissue biopsy of the calcaneus revealed a clear cell malignancy consistent with a renal primary. Follow-up abdominal CT scan revealed a renal lesion consistent with renal cell carcinoma. Case 2, a 37-yr-old male with squamous cell carcinoma of the esophagus, presented with foot pain. FNA and tissue biopsy of the calcaneous revealed metastatic squamous cell carcinoma. Case 3, a 52-yr-old male with a history of squamous cell carcinoma of floor of mouth, presented with knee pain and swelling. FNA and tissue biopsy of the patella revealed metastastic squamous cell carcinoma. To the best of our knowledge, this is the first complete FNA cytology report with histologic confirmation of unusual small bone metastases of the feet and patella from epithelial malignancies and shows the value of FNA cytology in establishing a correct diagnosis, and excluding primary skeletal diseases.

The role of second opinion pathology in the management of lesions of the head and neck.

Medical error is a common problem, and its human cost in terms of disability, suffering, and death is stunning. Steps toward reducing medical error will require the identification of mistake-prone practices within a complex health care system. Erroneous pathologic diagnosis has been identified as one source of error. This review was undertaken to assess the magnitude of diagnostic imprecision in lesions of the head and neck, and to address the validity of mandatory review of pathology material for patients who are referred from one institution to another for management of tumors involving the head and neck. Mandatory second opinion pathology consistently uncovers discrepancies across all major organ systems and has a profound impact on management and prognosis. Site-specific studies have implicated the head and neck as a high-risk area that is prone to diagnostic error. Diagnostic discrepancy rates have ranged from 1 to 53% for surgical pathology studies and from 17 to 60% for cytopathology studies. Major changes (affecting treatment or prognosis) occur in 5 to 7% of surgical pathology cases. The thyroid is consistently identified as a site that is particularly prone to diagnostic discrepancies; and no specific head and neck sites are immune to diagnostic error. Limited studies addressing the site-specific impact of second opinion pathology implicate the head and neck as a high-risk area that is prone to major changes in diagnoses. Accordingly, mandatory second opinion pathology makes good clinical and risk management sense for all patients referred to head and neck surgery or oncology services before a major therapeutic endeavor is undertaken.

Diagnosis of adult rhabdomyoma by fine needle aspiration cytology: a report of 2 cases.

Adult rhabdomyoma (ARh) is a rare, benign tumor originating in striated muscle cells. Ninety-three percent of the tumors occur in the head and neck region and sometimes mimic malignant tumors clinically. The preoperative correct diagnosis of this tumor is important as it can help in deciding on management. We report two cases of ARh diagnosed by fine needle aspiration cytology (FNAC). Case 1 was a 43-year-old male who presented with a recurrent tumor in the region of the floor of the mouth. Case 2 was a 37-year-old male who presented with soft tissue swellings in bilateral submandibular regions. On cytology in both cases, the smears showed numerous large tissue fragments of tumor cells, which were large, polygonal cells with abundant, vacuolated cytoplasm and bland, eccentrically placed nuclei. Characteristic cross-striation and intracytoplasmic inclusions were not conspicuous on cytosmears. However, a primary cytodiagnosis of ARh could be offered based on characteristic morphologic features. ARh has characteristic cytomorphologic features, which are described in detail in the present report, and they can help in diagnosing this tumor on FNAC.

[Value of irradiation of neck nodes metastases. Part I. Treatment of palpable nodes].

Medical records of 222 patients with neck nodes metastases from squamous cell carcinoma of supraglottic larynx (122 cases), tonsil (63 cases) and base of tongue (37 cases) were analyzed. All cases were treated with definitive irradiation between 1970-1981. One hundred ten patients were treated with orthovoltage technique with total doses of 5000-6000 rads, 150-180 rads per fraction; 112 patients with Co60 with total doses 6000-7000 rads, 180-230 rads per fraction. Local-regional control was achieved in 28% of cases. Failures in the neck nodes with primary tumour controlled, were recorded in 10% of patients. Failures in a primary tumour alone were observed in 26% of patients, in primary tumour and neck nodes in 36%. Radiocurability of primary tumour and involved neck nodes was similar. In cases with primary tumour controlled, the probability of eradication of neck nodes metastases is high, even in N3 stage patients. Residual neck nodes palpable 1 to 3 months after irradiation were unfavourable prognostic factor indicated 50% risk of neck recurrence. In patients with complete regression of primary and nodal disease, failure in neck nodes was recorded in 5% of cases. The role of surgery following irradiation in patients with cervical nodes metastases is discussed.

Mucoepidermoid carcinoma: Analysis of 76 cytologic cases and correlation with histologic grade.

Mucoepidermoid carcinoma (MEC) is the most common salivary gland (SG) malignancy. In this study, the author undertook analysis of a large collection of MEC cytologic cases. Cytopathology files were searched for MEC cases with histopathologic confirmation. Fine-needle aspiration (FNA) smears used standard technique. Seventy-six cases (63 patients [M:F = 1:1; age range, 23-87 years; mean age, 58 years]) met inclusion criteria. Aspirates were primary (54 [71%]), metastatic (18 [24%]), and locally recurrent (4 [5%]). FNA sites included parotid gland (49 [64%]), regional lymph nodes (11 [14%]), submandibular gland (5 [7%]), inner canthus of eye (2 [3%]), and lung (2 [3%]); and single specimens from palate, jaw, shoulder, paranasal sinus, floor of mouth, ear canal, and effusion. Cytologic diagnoses included MEC (30 cases [39%]), suspicious for MEC (16 [21%]), non-MEC carcinoma (9 [12%]), suspicious for malignancy (SM) (2 [3%], malignant (M) (1 [1%]), SG and/or suspicious SG neoplasm (7 [8%]), atypical (3 [5%]), nonneoplastic (5 [6%]), nondiagnostic (2 [3%]), and benign SG neoplasm (1 [1%]). A total of 26% of low-grade (LG) cases were diagnosed as malignant in contrast to 87% malignant in high-grade (HG) cases. Cytomorphology depended on tumor grade. LG MEC contained intra- and/or extra-cellular mucin and more uniform cell and/or nuclear morphology, whereas cytologic atypia, anisonucleosis, and keratotic cells were more typical of HG tumors. A malignant (M) or suspicious for malignancy (SM) cytologic interpretation was made in 76% of mucoepidermoid carcinoma (MEC) cases. In contrast to high-grade MEC (97% identified as M/SM), only 59% of low-grade (LG) MEC cases were interpreted as such, illustrating the continued diagnostic challenge posed by LG MEC using fine-needle aspiration biopsy.

Treatment and prognosis of deep neck infections.

Deep neck infections could have serious threats for life of patients, if not noticed adequately. Early diagnosis and correct treatment planning can save the patient's lives and prevent complications of disease extension and also surgical procedures that in some instances may be performed in an emergent situation with higher complication rates. Herein, we have studied 815 cases of deep neck abscesses and infections with especial consideration to treatment and prognosis. In a retrospective case review, we studied 815 cases admitted in our medical center from 1998 until the year 2013. Only patients with abscesses or infections deeper than superficial layer of deep cervical fascia were included in this study, based on the review of their medical records. From 815 cases (485 males and 330 females) surgery was indicated and performed in 428 cases and the rest were treated medically. In cases with dental infections as the etiologic factor, dental procedures were performed as early as possible (extraction in almost all cases). Tracheostomy was performed in five cases. All of the patients in medical treatment group and most of the surgically managed patients were discharged while were stable with relative or complete resolution of their symptoms. One of our patients, a 15 year old boy died with symptoms suggestive for mediastinitis and air way compromise. Early diagnosis and medical management can be effective in treating deep neck infections. Dental infections and also procedures are the major cause in our patients, although tonsillitis and peritonsillar abscess also were important leading causes with almost equal numbers in our series. Extraction of the infected tooth as early as possible while medical treatment is continued can be very helpful. In some cases it may be necessary to perform surgical exploration of the neck more than once, and finally, malignant neoplasia, somewhere in the head and neck should be considered in some cases, as in one of our patients with left side submandibular abscess whose underlying disorder was tongue SCC with neck metastasis. Prognosis can be excellent in both medically and surgically managed groups if started and designed early and promptly.

[Endosonographically controlled transluminal fine needle aspiration biopsy: diagnostic quality by cytologic and histopathologic classification].

EUS-guided fine needle aspiration (EUS-FNA) has emerged as a highly accurate technique for detecting and classifying mediastinal and pancreatic lesions as well as abdominal and recently retroperitoneal masses with a minimum of risk for the patient. To objectify these statements, we evaluated the quality of 72 EUS-FNA specimens by cytologic and histopathologic classification, investigated their contamination with tissue from the needle pathway and observed puncture-related complications in a retrospective study of 44 EUS-FNA in 41 consecutive patients (56 +/- 14 years, m = 24, f = 17; 13 pancreatic, 9 adrenal, 6 abdominal and 13 mediastinal masses). EUS-FNA was performed using a PENTAX 32 UA endosonoscope (longitudinal 7.5 MHz sector array) in combination with a needle system type "Hancke-Vilmann". 16 vs. 11 of 34 histopathologic and 38 cytologic specimens were classified "excellent", 7 vs. 10 "sufficient", 7 vs. 13 "poor" and 4 vs. 4 "failed". Analysis of contamination with tissue from the needle pathway showed 4 vs. 2 specimens "highly", 3 vs. 14 "clearly", 8 vs. 19 "slightly" and 19 vs. 3 "not" contaminated. Specimens classified "excellent" were less contaminated (p = 0,037). EUS-FNA identified 35 benign and 24 malignant masses. Definite diagnosis failed in 13 specimens. One nonfatal complication occurred. EUS-FNA is an accurate (89 %) and low-risk procedure to examine primary undiagnosed mediastinal, pancreatic, intraabdominal and especially adrenal lesions in most of the cases. Contamination with tissue from the needle pathway seems to be a major predictive factor of poor specimen quality and failed diagnosis. EUS-FNA expands the diagnostic approach of mediastinal, abdominal, pancreatic and adrenal masses and provides accurate specimens for reaching new differential-diagnostic competence, especially in endocrinologic cases.

Diagnosis and management of neck metastases from an unknown primary.

Neck lymph node metastases from occult primary constitute about 5%-10% of all patients with carcinoma of unknown primary site. Metastases in the upper and middle neck (levels I-II-III-V) are generally attributed to head and neck cancers, whereas the lower neck (level IV) involvement is often associated with primaries below the clavicles. Diagnostic procedures include a careful clinical evaluation and a fiberoptic endoscopic examination of the head and neck mucosa, biopsies from all suspicious sites or blindly from the sites of possible origin of the primary, computerized tomography scan, and magnetic resonance. The most frequent histological finding is Squamous Cell Carcinoma, particularly when the upper neck is involved. In these cases, a systematic tonsillectomy in the absence of suspicious lesions is discussed since up to 25% of primary tumours can be detected in this site. Thoracic, and abdominal primaries (especially from lung, oesophagus, stomach, ovary or pancreas) should be sought in the case of adenocarcinoma and involvement of the lower neck. Positron emission tomography with fluoro-2-deoxy-D-glucose allows detection of primary tumour in about 25% of cases, but this procedure is still considered investigational. Therapeutic approaches include surgery (neck dissection), with or without post-operative radiotherapy, radiotherapy alone and radiotherapy followed by surgery as reported by several guide-lines. In early stages (N1), neck dissection and radiotherapy seem to have similar efficacy, whereas more advanced cases (N2, N3) require combined approaches. The extent of radiotherapy (irradiation of bilateral neck and mucosa versus ipsilateral neck radiotherapy) remains debatable. A potential benefit from extensive radiotherapy should be weighed against its acute and late morbidity and difficulties in re-irradiation in the case of subsequent primary emergence. The role of other methods, such as chemotherapy and hyperthermia, remains to be determined.

Dental emergency

Cellulitis Bacterial infection in the oro-facial region can lead to abscess and swelling. The rapid spread of this infection through connective tissue spaces, is often referred to as cellulitis. The clinical features of cellulitis are a painful, diffuse, brawny swelling. The overlying skin is red, tense and shiny. There is usually an associated trismus, cervical lymphadenopathy, malaise and pyrexia. Cellulitis usually develops quickly, over the course of hours, and may follow an inadequately managed or ignored local dental infection. If the infection spreads to involve the floor of mouth and pharyngeal spaces, then the airway can be compromised. Initially, the floor of the mouth will be raised and the patient will have difficulty in swallowing saliva; this

Obstructing laryngeal carcinoma with a simultaneous lung lesion.

The consultants all agree to treat this patient who has a seemingly poor prognosis. However, they disagree as to the method and order of treatment. A patient's nutritional status is taken seriously by all 3 experts, although no one would delay surgery to correct a patient's weight loss. Drs. Komisar and Miller consider a weight loss of 10% significant and prefer to assess a patient with lymphocyte counts, serum albumin and transferrin levels, and creatinine/height index. Dr. Osguthorope follows serum hemoglobin, transferrin, prealbumin, and albumin levels. All the experts prefer an enteral route for weight gain. With regard to diagnosis, the experts agree that endoscopy plays an important role in tumor staging. Drs. Komisar and Osguthorpe believe that a tracheotomy should be performed prior to endoscopy. Dr. Miller would prefer intubation with an endotracheal tube but if there were any question of safety, he would proceed with a tracheotomy under local anesthesia. Confirming the histology of the pulmonary lesion is important. Dr. Komisar would proceed with flexible bronchoscopy and if tissue could not be obtained with this method he would obtain a fine-needle biopsy. He believes that if the histology matches that of the larynx, the pulmonary lesion is a metastasis. Dr. Osguthorpe would also obtain a needle biopsy of the lung lesion. If no other lesions are seen on the CT, he would consider this a second primary. Dr. Miller states that unless the histologies are different, the question of primary vs metastatic disease is unanswerable.(ABSTRACT TRUNCATED AT 250 WORDS)

Lymphangiomas in infancy and childhood.

Lymphangiomas are rare congenital malformations, commonly seen in the head and neck. This is a review of our experience in the management of 22 children with lymphangiomas. The medical records of children with lymphangioma admitted to Qatif Central Hospital, Qatif, Kingdom of Saudi Arabia over a period of 10 years from August 1989 to July 2000 were retrospectively reviewed for age at diagnosis, gender, mode of presentation, site of lymphangioma, method of treatment and outcome. We treated 22 children (12 females and 10 males) with lymphangioma. Their ages ranged from birth to 12 years, but majority (73%) were 4 years of age or younger. In 10 (45.5%), the lymphangioma involved the neck, 5 of them presented with sudden neck swelling as a result of hemorrhage into a lymphangioma, which caused diagnostic confusion. One patient had extensive lymphangioma involving the floor of the mouth, tongue, and left parotid gland. The remaining 11 patients had lymphangioma involving the parotid gland in 2, floor of the mouth in 3, and one each in the abdominal wall, above the right knee, mediastinum, breast, scrotum, and mesentery. All were treated surgically except 3 who were treated with intralesional bleomycin and showed complete disappearance of their lesions. There was recurrence in the child with mediastinal lymphangioma and a small recurrence in the child with bilateral lesions in the floor of the mouth. Lymphangiomas are relatively rare, involving mainly the head and neck, but they can be rarely seen at other sites. An important observation is the sudden appearance of cervical lymphangioma as a result of hemorrhage, which should be kept in mind. Our experience in the treatment of lymphangiomas using bleomycin is limited to draw any conclusions. We therefore considered surgery as treatment of choice for lymphangiomas. However, sclerotherapy can be used when there is a risk of damaging surrounding structures, and also to obviate the poor cosmetic results.

Fine needle aspiration cytology of head and neck masses. Seven years' experience in a secondary care hospital.

To study the value of fine needle aspiration (FNA) in the diagnosis of head and neck masses in a secondary care hospital. FNA from 225 patients with head and neck masses were reviewed. The results were analyzed, according to anatomic location, into 3 groups: inflammatory, congenital and neoplastic. FNA diagnoses were retrospectively correlated with available histologic findings or with the outcome of treatment. Accuracy, sensitivity, specificity, positive predictive value and negative predictive value in the diagnosis were computed. The numbers of lymph node biopsies performed before and after introduction of the procedure were compared. The most common diagnoses were reactive/nonspecific lymphadenitis and tuberculous (TB) lymphadenitis (33% and 21%, respectively). Sensitivity and negative predictive value for TB were 97% and 93%, respectively. The next most common masses were malignant neoplasms, cysts, benign neoplasms and sialadenitis, in 13%, 11%, 9% and 5%, respectively. Carcinomas metastatic to the lymph node were the most common type of cancer, followed by lymphoma and salivary gland carcinoma. The primary site of metastatic carcinomas were nasopharynx (44%) and thyroid (22%). The sensitivity and negative predictive values for the diagnosis of cancer were 95% and 96%, respectively, but reached 100% when lymphoma was excluded. The introduction of FNA reduced the number of lymph node biopsies performed in this hospital by 90%. FNA of head and neck masses proved to be a very useful diagnostic tool in separating inflammatory lesions (no surgical excision required) from cystic and neoplastic lesions. It enhanced surgical planning for malignant diseases, allowing rapid referral of lymphomas and cancer cases to tertiary care centers for management. FNA is simple, cost effective and suitable for developing countries and small, secondary care hospitals with limited resources. Skilled personnel and routine audits are the keys to success.

Sialadenitis

Chronic sclerosing sialadenitis Typically presents unilaterally in submandibular gland that cannot be differentiated clinically from a neoplasm, with pain an inconsistent finding. Obstructive sialadenitis Formation of stones in glandular ducts (sialoliths) can result in the development of obstructive sialadenitis. There may be a history of abrupt episodic swelling of the parotid or submandibular gland which is usually painful. These episodes typically occur around meal times, lasting 2 – 3 hours and gradually subsides. Autoimmune sialadenitis Characterised by persistent, asymptomatic bilateral swelling of parotid glands, and may represent as a manifestation of more widespread systemic disease. Dry eyes and dry mouth are commonly present and may be indicative of concomitant connective tissue disease (e.g. SLE, RA, or scleroderma). Oral candidiasis may also be present. Common key diagnostic factors

The occult head and neck primary: to treat or not to treat?

In patients with cervical node metastases from an unknown primary malignancy, there is unresolved controversy regarding the utility of elective irradiation of putative pharyngeal primary sites as part of the management plan. We analysed the experience of the Peter MacCallum Cancer Institute to assess the risk of withholding mucosal irradiation in relation to the diagnostic algorithm used to exclude a primary lesion at the time of initial presentation. Between 1983 and 1992, 69 patients were seen with metastatic squamous or undifferentiated carcinoma in cervical nodes from an unknown primary site. Neck nodal stage was NX or N1 13%; N2 52%; N3 35%. Nodal disease was bilateral in 12% of patients. Investigations included examination under anaesthesia, with or without random biopsies, in 84%, and CT scanning of the head and neck in 55%. Treatment was by surgery alone in four patients, by radiotherapy alone in 23, and by combined modalities in 40. Two patients received no treatment. Seventeen were treated with palliative intent. The radiotherapy fields provided comprehensive coverage of the pharynx in only eight patients and partial coverage in five. The estimated overall 5-year survival was 36%. Eleven primary tumours were detected between 7 months and 7 years after the initial treatment, of which nine were in head and neck sites. This yielded an estimated incidence of 30% at 10 years, which is similar to the risk of the development of a second primary after the successful treatment of a known head and neck cancer. Only three patients (none of whom had a CT scan as part of their initial evaluation) manifested a primary in an unirradiated pharyngeal site within 2 years of treatment. As the accuracy of imaging improves, the risk of missing an occult primary lesion will decrease further. We conclude that the use of standardized diagnostic investigations incorporating modern imaging substantially eliminates the indication for comprehensive elective mucosal irradiation with its consequent morbidity. The overriding priority in patients who present with advanced neck disease is to secure regional control.

Diagnosis and management of Ludwig's angina: An evidence-based review.

Ludwig's angina is a potentially deadly condition that must not be missed in the emergency department (ED). The purpose of this narrative review article is to provide a summary of the epidemiology, pathophysiology, diagnosis, and management of Ludwig's angina with a focus on emergency clinicians. Ludwig's angina is a rapidly spreading infection that involves the floor of the mouth. It occurs more commonly in those with poor dentition or immunosuppression. Patients may have a woody or indurated floor of the mouth with submandibular swelling. Trismus is a late finding. Computed tomography of the neck soft tissue with contrast is preferred if the patient is able to safely leave the ED and can tolerate lying supine. Point-of-care ultrasound can be a useful adjunct, particularly in those who cannot tolerate lying supine. Due to the threat of rapid airway compromise, emergent consultation to anesthesia and otolaryngology, if available, may be helpful if a definitive airway is required. The first line approach for airway intervention in the ED is flexible intubating endoscopy with preparation for a surgical airway. Broad spectrum antibiotics and surgical source control are keys in treating the infection. These patients should then be admitted to the intensive care unit for close airway observation. Ludwig's angina is a life-threatening condition that all emergency clinicians need to consider. It is important for clinicians to be aware of the current evidence regarding the diagnosis, management, and disposition of these patients.

Usefulness of cutting needle biopsy in recurrent and advanced staged head and neck malignancies in a palliative setting.

Advanced staged and recurrent head and neck malignancies require histological confirmation before planning further treatment. The purpose of this article is to focus on the clinical usefulness of cutting needle biopsies in the head and neck as a minimal invasive procedure to establish a tissue diagnosis in a palliative setting. A retrospective analysis on 74 core needle biopsies in 32 patients with recurrent and advanced staged head and neck malignancies was performed to determine the advantages of ultrasound-guided cutting needle biopsies compared to open biopsy and fine-needle aspiration cytology in palliative cancer treatment. We experienced 100% success in obtaining high-quality histopathologic specimens. In 93.8% of the patients, a tissue core of the target organ was successfully obtained. All of the patients tolerated the procedure well without any minor or major complications. Cutting needle biopsy in the head and neck is a safe and minimal-invasive procedure that can be performed in local anaesthesia on an outpatient basis. In a palliative setting, it can be recommended as an attractive alternative to both fine needle aspiration and open biopsy. It represents a simple and fast device for obtaining a tissue diagnosis with high diagnostic yield and accuracy and low morbidity.


You are faithfully describing an Edwards' syndrome. Although the cardiopathies and the alteration of the foot that he describes are common to several chromosomopathies, the alteration of the fingers and toes is very characteristic of Edwards' syndrome.

What is the most likely diagnosis of a newborn with microcephaly, intrauterine growth retardation, congenital heart disease, vertical talus foot and a peculiar facies (microphthalmia, small palpebral fissures, micrognathia and dysplastic ears), hands with the index and little finger above the middle and ring fingers?

Goyal-Naqvi Syndrome (Concurrent Trisomy 10p and Terminal 14q Deletion): A Review of the Literature.

Goyal-Naqvi syndrome (GNS) is a newly documented clinical entity that comprises trisomy 10p and terminal 14q deletion, though trisomy 10p and terminal 14q deletion have been discovered as distinct conditions in 1974 and 1997, respectively. Nevertheless, to date, the total number of reported cases of each of these conditions is estimated to be in double digits. Both manifest as a constellation of features like craniofacial dysmorphism, hypotonia, intellectual impairment and global developmental delay. Characteristic facies include protruded forehead, hypertelorism, epicanthic folds, down slanting palpebral fissures, flat nasal bridge, long philtrum, thin upper lip, carp-shaped mouth, retro-micrognathia and low set ears. Besides, trisomy 10p is strikingly associated with clinodactyly and camptodactyly which aids in clinical diagnosis, apart from other musculoskeletal deformities like hip dysplasia and pes planus. Intersex conditions have been found to commonly co-exist. As other systems also display involvement frequently, trisomy 10p is a discernible multiple congenital anomalies/mental retardation (MCA/MR) syndrome. On the other hand, with terminal 14q deletion, increased risk of certain types of cancer was predicted as specific tumor suppressor genes are lost in the deletion and thus, screening was recommended. Genetic workup using techniques like fluorescence in situ hybridization (FISH), spectral karyotyping (SKY) and chromosomal microarray-based comparative genomic hybridization (CGH) was found to be helpful in diagnosis of trisomy 10p and 14q deletion. Prenatal diagnosis of these conditions has been well documented too. Intrauterine growth retardation has been observed to be related to trisomy 10p. There is a paucity of literature on the management of children diagnosed with trisomy 10p or with terminal 14q deletion. Although management of a child diagnosed with concomitant occurrence of trisomy 10p and terminal 14q deletion by a multidisciplinary approach emphasizing physiotherapeutic intervention has shown remarkable improvement in motor skills, the care of children diagnosed with these genetic aberrations needs further investigation. Documentation of more such cases will help to expand phenotypic spectrum for early identification and to delineate natural history for a life span approach. Early identification and intervention facilitate tapping of the maximum neuroplastic potential for better neurodevelopmental outcomes. We present a review of current literature on this novel syndrome to identify gaps in knowledge to build future research.

Genetics, Nondisjunction -- Clinical Significance -- Autosomal Trisomies

Patau syndrome: Trisomy of chromosome 13 Clinical Features: Rocker-bottom feet, microphthalmia (abnormally small eyes), microcephaly (abnormally small head), polydactyly, holoprosencephaly, cleft lip and palate, congenital heart disease, and severe intellectual disability. Life expectancy is seldom longer than one year. Edwards syndrome: Trisomy of chromosome 18 Clinical Features: Rocker-bottom feet, low set ears, micrognathia (abnormally small jaw), clenched hands with overlapping fingers, congenital heart disease, and severe intellectual disability. Life expectancy is normally less than one year. Down syndrome: Trisomy of chromosome 21 The most common viable aneuploidy. Clinical Features: Single palmar crease, flat facies, prominent epicanthal folds, duodenal atresia, congenital heart disease, Hirschsprung disease, intellectual disability. Notably increased risk to develop Alzheimer's disease or leukemia. Life expectancy is about 60 years.

Trisomy 9

Full trisomy 9 is a lethal chromosomal disorder caused by having three copies (trisomy) of chromosome number 9. It can be a viable condition if trisomy affects only part of the cells of the body (mosaicism) or in cases of partial trisomy (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy, usually of the short arm of the chromosome (arm p). Presentation Symptoms vary, but usually result in dysmorphisms in the skull, nervous system problems, and developmental delay. Dysmorphisms in the heart, kidneys, and musculoskeletal system may also occur. An infant with complete trisomy 9 surviving 20 days after birth showed clinical features including a small face, wide fontanelle, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high-arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and a webbed neck.

Trisomy 9 syndrome.

An infant is described with multiple congenital anomalies associated with mosaic trisomy 9. Review of the three previously reported cases of trisomy 9 shows that these patients have several common features which make trisomy 9 a clinically distinct syndrome. The frequently encountered findings are: upward-slanted eyes, small palpebral fissures, enophthalmos or microphthalmos, broad base and prominent tip of the nose, microcephaly, micrognathia, low-set malformed ears, high-arched palate, congenital heart disease, skeletal and genito-urinary anomalies, abnormal palmar creases, failure to thrive, hypotonia and retardation.

Pathology_Robbins

Mental retardation Prominent occiput Mental retardation Micrognathia Low set ears Epicanthic folds and flat facial profile Congenital heart defects Intestinal stenosis Gap between first and second toe Umbilical hernia Hypotonia Abundant neck skin Simian crease Predisposition to leukemia TRISOMY 21: DOWN SYNDROME Incidence: 1 in 700 births Karyotypes: Trisomy 21 type: 47,XX, +21 Translocation type: 46,XX,der(14;21)(q10;q10),+21 Mosaic type: 46,XX/47,XX, +21 TRISOMY 13: PATAU SYNDROME Incidence: 1 in 15,000 births Karyotypes: Trisomy 13 type: 47,XX, +13 Translocation type: 46,XX,+13,der(13;14)(q10;q10) Mosaic type: 46,XX/47,XX, +13 TRISOMY 18: EDWARDS SYNDROME Incidence: 1 in 8000 births Karyotypes: Trisomy 18 type: 47,XX, +18 Mosaic type: 46,XX/47,XX, +18 Short neck Overlapping fingers Congenital heart defects Renal malformations Limited hip abduction Microphthalmia Polydactyly Cardiac defects Umbilical hernia Rocker-bottom feet Microcephaly and mental retardation Cleft lip and palate

Clinical manifestations in trisomy 9.

Complete trisomy 9 is a lethal diagnosis and most fetuses diagnosed thus die prenatally or during the early postnatal period and majority of such cases have been known to end in spontaneous abortion in the first trimester itself. One such rare survival of fetus ending in normal delivery and surviving until 20 days is reported here detailing the clinical manifestations of the child during the period of survival. The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and also webbed neck, characteristic of this trisomy 9 syndrome.

Dermatoglyphics

Trisomy 18 (Edward's syndrome): 6–10 arches on fingertips and single transverse palmar creases in 30% of patients. Trisomy 21 (Down syndrome): people with Down syndrome have a fingerprint pattern with mainly ulnar loops, and a distinct angle between the triradia a, t, and d (the 'adt angle'). Other differences include a single transverse palmar crease ("Simian line") (in 50% of patients), patterns in the hypothenar and interdigital areas, and lower ridge counts along digital midlines, especially in little fingers, which corresponds to finger shortening in those with Down syndrome. There is less variation in dermatoglyphic patterns between people with Down syndrome than between controls, and dermatoglyphic patterns can be used to determine correlations with congenital heart defects in individuals with Down syndrome by examining the left hand digit ridge count minus the right hand digit ridge count, and the number of ridges on the fifth digit of the left hand.

Rocker bottom foot

Unlike the flexible flat foot that is commonly encountered in young children, congenital vertical talus is characterized by presence of a very rigid foot deformity. The foot deformity in congenital vertical talus consists of various components, namely a prominent calcaneus caused by the ankle equines or planter flexion, a convex and rounded sole of the foot caused by prominence of the head of the talus, and a dorsiflexion and abduction of the forefoot and midfoot on the hindfoot. It gets its name from the foot's resemblance to the bottom of a rocking chair. There are two subcategories of congenital vertical talus namely idiopathic or isolated type and non-idiopathic type which may be seen in association with arthrogryposis multiplex congenital, genetic syndromes and other neuromuscular disorders. It can be associated with Edwards' syndrome (trisomy 18), Patau syndrome (trisomy 13), Trisomy 9 and mutation in the gene HOXD10.

Rocker bottom foot

It can be associated with Edwards' syndrome (trisomy 18), Patau syndrome (trisomy 13), Trisomy 9 and mutation in the gene HOXD10. Treatment The treatment of congenital vertical talus can be broadly classified into conservative and surgical. Serial casting The mainstay of management of congenital vertical talus is serial manipulative casting also known as the reversed Ponseti technique. This technique involves gradual step-wise correction of the deformity usually on a weekly basis. In the event there is residual deformity or incomplete correction at the end of the serial castings, the orthopedic surgeon may resort to a minimally invasive surgery at the talo-navicular joint to achieve full correction. The results of the serial manipulative casting technique or reversed Ponseti technique are satisfactory especially if started shortly after birth.

Trisomy 18 (Edwards syndrome): report of two cases.

Edwards syndrome is the second most common autosomal trisomy syndrome, resulting from an extra chromosome in chromosome 18. Recently we encountered two cases with the following representative features: intrauterine growth retardation, polyhydramnios, low-set ears, micrognathia and clenched hands. Both cases were female newborns and had an abnormal karyotype 47, XX, 18.

[Prenatal diagnosis of trisomy 18 syndrome with sonogram index scoring system].

To explore the value of sonogram index scoring system in the prenatal diagnosis of trisomy 18 syndrome. Neonates who had prenatal sonographic screening in our tertiary center were followed up from January 2004 to December 2009. The fetuses who were suspected with abnormalities received karyotype analysis. All fetuses were divided into case group (trisomy 18 group) and the control group (non-trisomy 18 group). The latter group was constituted of fetuses with trisomy 21, trisomy 13, other chromosomal abnormalitis and fetuses with normal karyotype. Logistic regression analysis was done to decide the individual sonographic features of trisomy 18. A score was assigned for ultrasound markers according to their likelihood ratios for trisomy 18 syndrome. A score of 3 was assigned for the sonographic features with likelihood ratio over 200, 2 for those with likelihood ratio between 100 and 200, and 1 for those with likelihood ratio less than 100. The diagnostic efficacy of the ultrasound index scoring system was evaluated by diagnostic test. The optimal cutoff value was determined by receiver operating characteristic (ROC) curve. The study group included 59 fetuses with trisomy 18. And 26 486 fetuses did not have trisomy 18 syndrome, including 93 fetuses with trismoy 21, 19 fetuses with trisomy 13, 134 fetuses with other chromosomal abnormalities, 3739 fetuses with normal karyotype and 22 501 fetuses with normal appearance after birth. Two or more structural defects were observed in each trisomy 18 fetus. The highest incidence of sonogram abnormalities was extremities abnormalities (85%, 50/59), followed by cardiac defects (83%, 49/59) and central nervous system (CNS) malformations (75%, 44/59). Overlapping fingers, ventricular septal defect and strawberry-shaped skull were the most common abnormalities in extremities abnormalities, cardiac defects and CNS malformations, respectively. Logistic regression identified 16 markers, including choroid plexus cyst, strawberry-shaped skull, enlarged cisterna magna, holoprosencephaly, low-set ears, ventricular septal defect, hypoplastic left heart syndrome, etc. Different scores were assigned according to the likelihood ratios of these markers. In trisomy 18 group, fetuses with the sonographic score of 1, 4, 9, 10 to 16 were 2% (1/59), 9% (5/59), 10% (6/59) and 32% (19/59) respectively, whereas in non-trisomy 18 group they were 2.549% (675/26 486), 0.215% (57/26 486), 0.004% (1/26 486) and zero, respectively. When a score of 4 was used as the cutoff value for diagnosing fetal trisomy 18, the sensitivity and specificity were 0.966 and 0.997, respectively. The area under ROC curve was 0.999. The ultrasound index scoring system may help to quantify the ultrasound features and has a good diagnostic value for fetal trisomy 18 syndrome. The cutoff value of 4 has the best diagnostic efficacy.

Palpebral fissure

The palpebral fissure is the elliptic space between the medial and lateral canthi of the two open eyelids. In simple terms, it is the opening between the eyelids. In adult humans, this measures about 10 mm vertically and 30 mm horizontally. Variations Congenital dysmorphisms It can be reduced (short, "narrow") in horizontal size by fetal alcohol syndrome and in Williams syndrome. The chromosomal conditions trisomy 9 and trisomy 21 (Down syndrome) can cause the palpebral fissures to be upslanted, whereas Marfan syndrome can cause a downslant. An increase in vertical height can be seen in genetic disorders such as cri-du-chat syndrome. Acquired The fissure may be increased in vertical height in Graves' disease, which is manifested as Dalrymple's sign. It is seen in disorders such as cri-du-chat syndrome.

The trisomy 18 syndrome.

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.

Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.

Trisomy 18 or Edward syndrome is a chromosomal disorder due to the presence of an extra chromosome 18. We describe the phenotype of five fetuses at different gestational ages, each highlighting a different aspect of trisomy 18. The clinical spectrum included increased nuchal translucency, fetal hydrops, congenital malformations of the central nervous system, congenital heart disease, radial ray defects, and characteristic facial gestalt. We made a comparison of prenatal ultrasonography and the autopsy findings. The fetal autopsy defined the craniofacial and digit anomalies better compared with sonography. The facial features of tall forehead, hypoplastic nares, microstomia, micrognathia, low set abnormal ears along with clenched hands, and short hallux are typical for trisomy 18 and help in planning the targeted cytogenetic or molecular tests. The diagnosis was established by either fluorescence in situ hybridization or quantitative fluorescent polymerase chain reaction or chromosomal microarray in the patients. This communication emphasizes the importance of detailed assessment for craniofacial and limb anomalies on prenatal ultrasonography which can prompt an early evaluation for trisomy 18.

Familial 'partial 9p' trisomy: six cases and four carriers in three generations.

Six cases of translocation trisomy for the distal half of the short arm of a number 9 chromosome and four asymptomatic balanced translocation carriers are presented in a three-generation pedigree. The clinical features are remarkably similar to those recently recognized and increasingly reported in full short arm (9p) trisomy and should be considered a modification of the same syndrome. In addition to non-specific mental retardation and short stature, there is, in common, a characteristic facies, including down-turned corners of the mouth, a slightly bulbous nose, moderately large ears, suggestively wide-set eyes with an antimongoloid slant, dysplasia and hypolasis of the nails, clindactyly of the 5th fingers, and abnormal dermatoglyphs. It appears that the 'trisomy 9p syndrome' in its variant forms, including trisomies for more or less than just the short (p) arm, is one of the most common clinical autosome anomalies in humans, exceeded only by trisomy 21 (Down's syndrome) and possibly trisomies of chromosomes 13 and 18.

Patau syndrome

Recurrence risk Unless one of the parents is a carrier of a translocation, the chances of a couple having another trisomy 13 affected child is less than 1%, below that of Down syndrome. Diagnosis Diagnosis is usually based on clinical findings, although fetal chromosome testing will show trisomy 13. While many of the physical findings are similar to Edwards syndrome, there are a few unique traits, such as polydactyly. However, unlike Edwards syndrome and Down syndrome, the quad screen does not provide a reliable means of screening for this disorder. This is due to the variability of the results seen in fetuses with Patau.

Patau syndrome

In England and Wales during 2008–09, there were 172 diagnoses of Patau syndrome (trisomy 13), with 91% of diagnoses made prenatally. There were 111 elective abortions, 14 stillbirth/miscarriage/fetal deaths, 30 outcomes unknown, and 17 live births. Approximately 4% of Patau syndrome with unknown outcomes are likely to result in a live birth, therefore the total number of live births is estimated to be 18. References External links Trisomy 13 at WebMD Autosomal trisomies Syndromes with microcephaly Syndromes with cleft lip and/or palate Syndromes affecting the nervous system Syndromes with dysmelia Syndromes affecting the heart

Trisomy

Human trisomy Trisomies can occur with any chromosome, but often result in miscarriage, rather than live birth. For example, Trisomy 16 is the most common trisomy in human pregnancies, occurring in more than 1% of pregnancies; only those pregnancies in which some normal cells occur in addition to the trisomic cells, or mosaic trisomy 16, survive. This condition, however, usually results in spontaneous miscarriage in the first trimester. The most common types of autosomal trisomy that survive to birth in humans are: Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) Trisomy 9 Trisomy 8 (Warkany syndrome 2) Of these, Trisomy 21 and Trisomy 18 are the most common. In rare cases, a fetus with Trisomy 13 can survive, giving rise to Patau syndrome. Autosomal trisomy can be associated with birth defects, intellectual disability and shortened life expectancy. Trisomy of sex chromosomes can also occur and include:

Genetics, Chromosome Abnormalities -- Clinical Significance -- Trisomy 18 (Edwards Syndrome)

Incidence: Approximately 1/3000 to 1:5000  live births (second most common autosomal trisomy) Karyotype: 47, XX or XY, +18 Clinical features: Low birth weight, microcephaly, micrognathia, low-set, malformed ears, clenched fists with overlapping fingers, congenital heart and renal abnormalities, rocker-bottom feet, severe intellectual disability, survival about one year. Prognosis: miscarriage, stillbirth, or early death (median survival around one year of age). [4] [6]

Clinical delineation of trisomy 9 syndrome.

A rare but typical case of trisomy 9 mosaicism is reported. The infant showed the characteristic phenotype of this syndrome: low-set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart disease, abnormal hands and feet, cryptorchidism, micropenis, and early death. This infant, however, did not have dislocation of joints or microcephaly; the head was larger than normal and had almost a cloverleaf shape.

Karyotype

In humans Chromosomal abnormalities that lead to disease in humans include Turner syndrome results from a single X chromosome (45,X or 45,X0). Klinefelter syndrome, the most common male chromosomal disease, otherwise known as 47,XXY, is caused by an extra X chromosome. Edwards syndrome is caused by trisomy (three copies) of chromosome 18. Down syndrome, a common chromosomal disease, is caused by trisomy of chromosome 21. Patau syndrome is caused by trisomy of chromosome 13. Trisomy 9, believed to be the 4th most common trisomy, has many long lived affected individuals but only in a form other than a full trisomy, such as trisomy 9p syndrome or mosaic trisomy 9. They often function quite well, but tend to have trouble with speech. Also documented are trisomy 8 and trisomy 16, although they generally do not survive to birth. Some disorders arise from loss of just a piece of one chromosome, including

Micrognathism

Causes While not always pathological, it can present as a birth defect in multiple syndromes including: Catel–Manzke syndrome Bloom syndrome Coffin–Lowry syndrome Congenital rubella syndrome Cri du chat syndrome DiGeorge syndrome Ehlers–Danlos syndrome Fetal alcohol syndrome Hallermann–Streiff syndrome Hemifacial microsomia (as part of Goldenhar syndrome) Incontinentia pigmenti Juvenile idiopathic arthritis Marfan syndrome Möbius syndrome Noonan syndrome Pierre Robin syndrome Prader–Willi syndrome Progeria Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Treacher Collins syndrome Trisomy 13 (Patau syndrome) Trisomy 18 (Edwards syndrome) Trisomy 21 (Down syndrome) Wolf–Hirschhorn syndrome X0 syndrome (Turner syndrome) Diagnosis It can be detected by the naked eye as well as dental or skull X-Ray testing. See also Human mandible Macrognathism Retrognathism References External links Jaw disorders

Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.

We describe an 8-years old female with supernumerary chromosome der(21)t(4;21)(q25;q22) resulting in partial trisomy 4q25-qter and partial trisomy 21(pter-q22). The extra material was originated from a reciprocal balanced translocation carrier mother (4q;21q). Karyotyping was confirmed by FISH using whole chromosome painting probes for 4 and 21q and using 21q22.13-q22.2 specific probe to rule out trisomy of Down syndrome critical region. Phenotypic and cytogenetic findings were compared with previously published cases of partial trisomy 4q and 21q. Our patient had the major criteria of distal trisomy 4q namely severe psychomotor retardation, growth retardation, microcephaly, hearing impairment, specific facies (broad nasal root, hypertelorism, ptosis, narrow palpebral fissures, long eye lashes, long philtrum, carp like mouth and malformed ears) and thumbs and minor feet anomalies. In spite of detection of most of the 3 copies of chromosome 21, specific features of Down syndrome (DS) were lacked in this patient, except for notable bilateral symmetrical calcification of basal ganglia. This report represents further delineation of the phenotype-genotype correlation of trisomy 4q syndrome. It also supports that DS phenotype is closely linked to 21q22. Nevertheless, presence of basal ganglia calcification in this patient may point out to a more proximal region contributing in its development in DS, or that genes outside the critical region may influence or control manifestations of DS features.

Trisomy 18: a case study.

Trisomy 18 is a devastating genetic disorder that can be characterized by multiple congenital anomalies. Some of these anomalies have no medical significance, but merely provide clues to suggest the diagnosis. The most common form of trisomy 18 is the nondisjunction type, which affects every cell of the body with an extra chromosome 18. Mfected infants are typically born with a prominent occiput, short eye fissures with droopy eyelids, micrognathia, external ear variations, clenched fist with index finger overlapping the third finger and fifth finger overlapping the fourth, small fingernails and toenails, underdeveloped or altered thumbs, "rocker-bottom" feet, and redundant skin at the back of the neck. Congenital heart defects are common. The mortality rate among infants with trisomy 18 is high as a result of cardiac and renal malformations, feeding difficulties, sepsis, and central apnea caused by central nervous system defects. A case study is provided.

Dandy–Walker malformation

Other genes that have been linked to DWM include ZIC1, ZIC4, FOXC1, FGF17, LAMC1 and NID1. Chromosomal abnormalities In those who are diagnosed with DWM before birth on ultrasound, up to half are found to have a chromosomal abnormality, with the most common being Edwards syndrome (trisomy 18), at roughly 26% of prenatal DWM cases. 6.5% of those diagnosed with DWM after birth also have Edwards syndrome. Other chromosomal abnormalities that can lead to DWM include triploidy, Patau syndrome (trisomy 13), trisomy 9 and partial 3q deletion or duplication. The 3q24 region contains the ZIC1 and ZIC4 genes, known to be associated with DWM. External toxins Warfarin use during pregnancy has been known to lead to systemic defects in the fetus, including ocular dysgenesis, microcephaly, agenesis of the corpus callosum, skeletal abnormalities and heart defects. In 1985, it was also linked to DWM. Pathophysiology

Edwards syndrome

Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability. Most cases of Edwards syndrome occur due to problems during the formation of the reproductive cells or during early development. The rate of disease increases with the mother's age. Rarely, cases may be inherited from a person's parents. Occasionally, not all cells have the extra chromosome, known as mosaic trisomy, and symptoms in these cases may be less severe. An ultrasound during pregnancy can increase suspicion for the condition, which can be confirmed by amniocentesis.

Features of trisomy 18 and 18p- syndromes in an infant with 45,XY,i(18q).

An isochromosome for the long arm of chromosome number 18 - 46,XY,i(18q) - was found in an infant who had features of both trisomy 18 and 18p- syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker-bottom feet. Those of 18p- syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely-spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.

Prenatal evaluation of a fetus with trisomy 18 and additional balanced de novo Rob(13;14).

The main aim of this work is to present unusual case with full trisomy 18 and additional robertsonian translocation- Rob (13;14) detected through abnormalities found in prenatal ultrasound examination. A 26 years-old pregnant women with no family history of any reproductive failure underwent level II ultrasound screening in 19 weeks of gestation. Polyhydramnios, intrauterine growth retardation, hydrocephalus, enlarged lateral ventricles, club foot and cardiac defect were found. Amniocentesis was indicated considering the high likelihood of a chromosomal aberration. Abnormal karyotype was detected 46, XY, der(13;14)(q10;q10), +18. Karyotypes of parents were normal, what confirmed de novo origin of this aberration. Pregnancy was terminated. In postnatal examination fetus demonstrated intrauterine groth retardation and a lot of dysmorphic features characteristic for trisomy 18: microcephaly, prominent occiput, very low set and posteriorly rotated ears, hypertelorism, small mouth, small recessed mandible, a high narrow palate, broad nasal bridge, low-set ears, preauricilar skin appendage, clenched fingers clinodactyly of Vth fingers and club foot. In conclusion it is worth to say that our described fetus demonstrated rather typical for trisomy 18 ultrasonographic features. Balanced Rob (13;14) gives no phenotypic expression. Possible interchromosomal effect in complex chromosomal aberration formation such as Rob (13;14) with trisomy 18 was discussed.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

A partial duplication of the distal long arm of chromosome 5 (5q35-->qter) is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental retardation, microcephaly, short stature, skeletal anomalies, and craniofacial dysmorphism featuring flat facies, micrognathia, large, low-set dysplastic ears, hypertelorism, almond-shaped, down-slanted palpebral fissures, epicanthal folds, small nose, long philtrum, small mouth, and thin upper lip. Less frequent remarkable findings include craniosynostosis, heart defect, hypoplastic phalanges, preaxial polydactyly, hypospadias, cryptorchidism, and inguinal hernia. In most patients with a partial duplication of 5q the aberration occurred due to an inherited unbalanced translocation, therefore the phenotype was not reflective of pure trisomy 5q. We report on a 9.5-year-old boy with some feature of Hunter-McAlpine syndrome including short stature, complex heart defect (dextrocardia, dextroversion, PFO), bilateral cryptorchidism, hypothyroidism, and craniofacial dysmorphism. Additionally, bilateral radial agenesis with complete absence of Ist digital rays, ulnar hypoplasia with bowing, choroidal and retinal coloboma, abnormal biliary vesicle were identified, which have never been noted in 5q trisomy patients. Karyotype analysis, sequencing and MLPA for TBX5 and SALL4 genes were unremarkable. Array comparative genomic hybridization detected a duplication on 5q35.2-5q35.3, resulting from a de novo chromosomal rearrangement. Our proband carried the smallest of all previously reported pure distal 5q trisomies encompassing terminal 5.4-5.6 Mb and presented with the most severe limb malformation attributed to the increased number of distal 5q copies. We postulate that a terminal distal trisomy of 5q35.2-5q35.3, which maps 1.1 Mb telomeric to the MSX2 gene is causative for both radial agenesis and complex heart defect in our proband. A potential candidate gene causative for limb malformation in our proband could be FGFR4, which maps relatively in the closest position to the chromosomal breakage site (about 1.3 Mb) from all known 5q duplications. Since the limb malformation as well as the underlying genetic defect are distinct from other 5q trisomy patient we propose that a position effect resulting in altered long-range regulation of the FGFR4 (alternatively MSX2) may be responsible for the limb malformation in our proband.

Trisomy X

Due to overlapping dysmorphic features, such as epicanthic folds and upslanting palpebral fissures, some cases of trisomy X may be ascertained due to suspicion of Down syndrome. When the primary symptom is tall stature, trisomy X may be considered alongside other conditions depending on the rest of the phenotype. Marfan syndrome may be considered due to the disproportion between limb and torso length observed in both syndromes, as well as both experiencing joint issues. Beckwith-Wiedemann syndrome, another disproportionate tall stature syndrome, can cause developmental disability similar to that seen in some cases of trisomy X.

Chromosome

Edwards syndrome, or trisomy-18, the second most common trisomy. Symptoms include motor retardation, developmental disability and numerous congenital anomalies causing serious health problems. Ninety percent of those affected die in infancy. They have characteristic clenched hands and overlapping fingers. Isodicentric 15, also called idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15). Jacobsen syndrome, which is very rare. It is also called the terminal 11q deletion disorder. Those affected have normal intelligence or mild developmental disability, with poor expressive language skills. Most have a bleeding disorder called Paris-Trousseau syndrome.

Autosomal trisomy 18 and 13 syndromes in Ibadan, Nigeria.

The clinical, cytogenetic, dermatoglyphic and autopsy findings in 14 cases of trisomy 18 as well as in seven cases of trisomy 13 seen in the Paediatric Department of University College Hospital (UCH), Ibadan, Nigeria, from 1972 to 1981 are presented. The incidence was 0.12 and 0.08 per 1000 livebirths for trisomies 18 and 13 respectively. All the patients were of regular trisomies except two; one case was mosaic for trisomy 18 and another case of trisomy 13 seemed to have derived an extra chromosome of the D group from a reciprocal D/D translocation that was maternally carried. Both syndromes have certain physical features in common which sometimes made clinical diagnosis difficult, but each had diagnostic features of its own. While the combination of microcephaly, cleft lip and/or palate, microphthalmos, capillary haemangioma and polydactyly form the hallmark of trisomy 13, the presence of prominent occipit, micrognathia, clenched fist together with protruding heel make the appearance of trisomy 18 unmistakable. The prognosis in both syndromes is poor and those who survive beyond infancy exhibit severe mental retardation. It is therefore important to establish the diagnosis early so as to conserve limited resources in an attempt to prolong the lives of neonates with these syndromes.