![]() ![]() 10- 12 We encountered a few children with severe hypoplasia of the basiocciput during a radiologic assessment of patients with CHARGE syndrome. Malformations of the inner ear, olfactory structures, and hypothalamus/pituitary axis in patients with CHARGE syndrome have usually been evaluated by using imaging techniques. 8, 9 Therefore, a more discriminating syndromic delineation and further studies of the genotype-phenotype correlation are required to understand this syndrome thoroughly. 7 Nevertheless, locus heterogeneity of CHARGE syndrome might exist because only 60%–70% of patients with CHARGE syndrome have CHD7 mutations. However, this hypothesis has been disputed by the recent discovery of a CHARGE syndrome gene, CHD7, which encodes the chromodomain helicase deoxyribonucleic acid (DNA)-binding protein 7. 3- 6 The phenotypic diversity of affected individuals has raised the notion that CHARGE is not a genuine syndrome but an association of various anomalies occurring in a nonrandom but inconsistent fashion. 3 Other cardinal features include facial palsy or facial asymmetry, anomalies of the inner ear and laryngotracheoesophagus, anosmia, hypogonadotropic hypogonadism, and orofacial clefts. 2 The mnemonic acronym CHARGE represents the major anomalies associated with the disorder: coloboma of the eye, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, and ear anomalies. Of those, 5 had associated basilar invagination and 1 had Chiari type I malformation with syringomyelia.ĬONCLUSIONS: Basioccipital hypoplasia and basilar invagination are prevalent in patients with CHARGE syndrome.ĬHARGE syndrome is a widespread malformation that was originally described independently by Hall 1 and Hittner et al. RESULTS: Basioccipital hypoplasia was identified in 7 of the 8 patients with CHARGE syndrome and was severe in 6. 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. 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. 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. Our purpose was to evaluate the incidence and severity of this anomaly in this syndrome. To our knowledge, this anomaly has not been reported. We encountered a few children with severe hypoplasia of the basiocciput during a radiologic assessment of patients with CHARGE syndrome. ![]() Affected individuals often undergo head and neck imaging to assess abnormalities of the olfactory structures, hypothalamus-pituitary axis, and inner ear. BACKGROUND AND PURPOSE: The causative gene of the common congenital malformation referred to as CHARGE syndrome is CHD7. ![]()
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