Abnormal basiocciput development in CHARGE syndrome.

BACKGROUND AND PURPOSE: The causative gene of the common congenital malformation referred to as CHARGE syndrome is CHD7. Affected individuals often undergo head and neck imaging to assess abnormalities of the olfactory structures, hypothalamus-pituitary axis, and inner ear. We encountered a few children with severe hypoplasia of the basiocciput during a radiologic assessment of patients with CHARGE syndrome. To our knowledge, this anomaly has not been reported. Our purpose was to evaluate the incidence and severity of this anomaly in this syndrome.

MATERIALS AND METHODS: Sagittal MR images of 8 patients with CHARGE syndrome were retrospectively reviewed by 2 radiologists who consensually evaluated the status of the basiocciput of the patients with CHARGE syndrome, as either normal or hypoplastic; and associated anomalies, which include basilar invagination, Chiari type I malformation, and syringomyelia, as either present or absent. The length between the basion (Ba) and the endo-sphenobasion (Es) and between the basion and the exo-sphenobasion (Xs) was measured on midsagittal MR images of the 8 patients and 70 age-matched controls. We searched for trends related to age in the length of Ba-Es and Ba-Xs of the control children by using a matched t test.

RESULTS: Basioccipital hypoplasia was identified in 7 of the 8 patients with CHARGE syndrome and was severe in 6. Of those, 5 had associated basilar invagination and 1 had Chiari type I malformation with syringomyelia.

CONCLUSIONS: Basioccipital hypoplasia and basilar invagination are prevalent in patients with CHARGE syndrome.