Crouzon Syndrome: Clinico-Radiological Illustration of a Case
A 20-year-old female along with her parents came to the department of oral medicine with a complaint of forward placement of the lower jaw with respect to the upper jaw. As the patient's appearance and head size was not normal, a detailed family and medical history was taken. Review of medical history was unremarkable. The mother reported normal labor and delivery. There were no anomalies in any siblings or near relatives. The enlarged size of the head was noticed by the mother when the girl was 9 months old and the severity had gradually increased.\nOn general examination, the patient was of short stature, had a wide nasal bridge, hypertelorism, and exophthalmos. Intra-oral examination revealed high arch palate, hypoplastic maxilla causing prognathism of the mandible, and class III malocclusion [Figure –]. The patient was evaluated by an opthalmologist for complaints regarding vision. The findings revealed papilloedema suggestive of raised intracranial pressure.\nThe patient was subjected to radiographic investigations. The orthopantomogram revealed the presence of all permanent teeth with no obvious abnormality. Lateral skull view demonstrated a retruded maxilla with a relatively large mandible and copper beaten appearance []. On anteroposterior spine radiograph, decreased intervertebral space between C5 and C6 vertebrae was seen []. Radiographic examination of metacarpal bones and fingers were unremarkable. Paranasal sinus view revealed obliterated sutures, small paranasal sinuses, and prominent cranial markings of the inner surface of cranial vault seen as multiple radiolucencies appearing as depressions (digital impressions) []. Three-dimensional (3D) computed tomographic images of the skull revealed increased circumference of the skull and moderate degree of hydrocephalus with diffuse indentation of inner table of the skull [Figures and ].\nThe clinical, dental, ophthalmologic features, and radiographic findings pointed to the diagnosis of Crouzon syndrome.\nOwing to the compromised oral hygiene, a thorough professional oral prophylaxis was performed. The patient was then referred to the department of orthodontics and dentofacial orthopedics for the correction of maxillary hypoplasia, mandibular prognathism, and class III malocclusion.