title: Chudley-McCullough syndrome: expanded phenotype and review of the literature.
abstract: Chudley-McCullough syndrome is an autosomal recessive condition characterized by profound sensorineural deafness, hydrocephalus secondary to obstruction of the foramen of Monro, and other structural abnormalities of the brain. We describe a family including two brothers and a sister with this condition. Each has profound sensorineural deafness that was either congenital or rapidly progressive in infancy and asymmetric dilatation of the lateral ventricles secondary to obstruction of the foramen of Monro. They also have additional brain abnormalities, including arachnoid cyst, partial agenesis of the corpus callosum, and abnormalities in the migration of cerebellar cells. This report is the fourth description of this condition within four years, suggesting Chudley-McCullough may not be as rare as once assumed. We, therefore, recommend an audiological assessment for all children with hydrocephalus, especially those with obstruction of the foramen of Monro.
authors.affiliation: Department of Biology, Gallaudet University, Washington DC, USA.
authors.forename: Katherine Oelrich
authors.initials: KO
authors.lastname: Welch
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
authors.forename: Walter E
authors.initials: WE
authors.lastname: Nance
authors.forename: Susan H
authors.initials: SH
authors.lastname: Blanton
authors.forename: Kathleen S
authors.initials: KS
authors.lastname: Arnos
authors.forename: Arti
authors.initials: A
authors.lastname: Pandya
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D014695:Cerebral Ventriculography; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics* / Q000503:physiopathology; D007223:Infant; D008297:Male; D010375:Pedigree