Craniofacial Dystosis

1 Signs and Symptoms

Dysmorphic facial features, proptosis, hypertelorism, eyelid retraction, eyelid coloboma, lagophthalmos, other systemic anomalies [1,2,3,4].

2 Differential Diagnosis

There are over 190 congenital syndromes of the head and neck which have been identified. The diagnosis of a cranio-dysmorphic syndrome is best performed by a multidisciplinary craniofacial team. Genetic testing and counseling is rudimentary in the diagnosis, identification of other systemic abnormalities, and treatment plan. Cranio-orbital imaging with 3-D CT imaging is critical in diagnosis and treatment planning.

3 Diagnosis

Clinical characteristics and radiologic findings. CT of orbits is the radiologic study of choice, and contrast material may be useful in delineating vascular structures especially in surgical planning. Diagnosis is confirmed sometimes with genetic testing.

4 Treatment

Surgical reconstruction is performed when necessary. Hydrocephalus will require early intervention. Sometimes,...