Clinical spectrum of Silver - Russell syndrome
A 12-year-old female patient presented with global developmental delay and facial dysmorphism. Her chief complaint was irregularly arranged teeth. On examination, her height was 125 cm (<3rd %) and having the following features: Hypertelorism, triangular face, low set ears, scanty eyebrows, depressed nasal bridge, frontal bossing, poor vision of the right eye, crowding of upper and lower dental arches [Figures and ]. She was found to have an ear tag on the right ear and a pit on the left ear []. However, she did not have any hearing difficulties. She reported intolerance to heat and poor sweating ability. She had clinodactyly of the fingers and disproportionate toes []. She had trouble in running at school.\nHer facial features were leptoprosopic facial form having a facial index of 173.4 with the increase in lower facial third, convex profile, posterior divergence, hyperactive mentalis and shallow mentolabial sulcus. She had incompetent lips with interlabial gap of 10 mm. On intra oral examination, she had high arch palate and lower midline shifted to the left by 3 mm. The maxillary and mantibular dentition crowding was 8 mm and 4 mm respectively. She had Class I molar relationship on the right side and end - on the relationship on the left side. Canine relationship was Class II on both sides. She had an overjet of 3 mm and openbite of 6 mm. She was found to have crossbite in relation to the left posterior region. Cephalometric analysis indicated increased cranial base angle, decreased anterior and posterior cranial base length. Maxilla was retropositioned relative to cranium. Mandibular skeletal base was retrognathic to cranium. In short, she had Class II skeletal base, vertical growth pattern and deficient chin.\nThe father of this patient also had similar features []. The father was short. His ears were low set and had pits in both right and left ears. He also had hypertelorism, scanty eyebrows and hair on head absent, slanting eyes and poor sweating and heat intolerance. Mother and sibling of the patient were normal. Routine chromosome analysis of daughter and father indicated normal karyotypes.\nHematological investigations of the 12-year-old patient where carried out. Hematological values were within normal limits. Based on the history, clinical examination and investigation findings, a diagnosis of Silver - Russell syndrome was made. Differential diagnoses considered were Fetal Alcohol syndrome, Bloom syndrome and Robinow syndrome.\nPatient was advised regarding growth hormone therapy and orthodontic correction of malocclusion. The orthodontic treatment plan was to have a period of rapid maxillary expansion followed by fixed orthodontic therapy. The phase of rapid maxillary expansion is completed [].