CROUZONS SYNDROME

A 3 year old female child with normal intelligence presented in view of her different appearance with protruding eyes, trigonocephaly[enlarged cranial vault with frontal boosing], depressed Nasal bridge , low set ears with out any hearing loss. Ocular manifestations such as shallow orbits ,hypertelorism, bilateral ocular proptosis. A mild degree of midfacial hypoplasia was also present. His hands and feet appers to be normal. these features started since childhood and severity gradually increased. Family history revealed autosomal dominant inheritance from her father. On fundus examination revealed chronic papilledema features.

 skull X- ray revealed abnormal skull shape,hypoplastic maxilla , Prominent cranial markings of the inner surface of cranial vault seen as multiple radiolucencies appering as depressions resulting in copperbeaten/beaten metal appearance indicating internal remodeling of the calvaria due to an increase in intracranial pressure as a result of premature cranial suture fusion.

CT FEATURES SHOW: Maxillary hypoplasia Widening frontal convexity Fusion of sutures of skull Diffuse Indentations of inner table of skull

 Differential diagnosis of Crouzon's syndrome considers Apert syndrome and other problems including Carpenter syndrome, Pfeiffer syndrome, Seatre-Chotzen syndrome, and Jackson Weiss syndrome