title: Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities.
abstract: The Chudley-McCullough syndrome, an autosomal recessive condition first reported by Chudley et al. [1997], comprises profound sensorineural hearing loss and hydrocephalus secondary to an obstruction of the foramen of Munro. We describe two more sibs with this condition. One girl had sensorineural hearing loss and hydrocephalus due to obstruction of the foramen of Munro. Incidentally she was also found to carry a full mutation in the FMR1 gene. The older sister had profound sensorineural hearing loss and hydrocephalus not due to obstruction of the foramen of Munro; she also had callosal dysgenesis, gray matter heterotopia, cortical dysplasia, and cerebellar dysgenesis. Thus, the Chudley-McCullough syndrome may include hydrocephalus not necessarily related to obstruction of the foramen of Munro and other structural brain abnormalities.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Royal University Hospital and University of Saskatchewan, Saskatoon, Saskatchewan, Canada. edmond.lemire@usask.ca
authors.forename: E G
authors.initials: EG
authors.lastname: Lemire
authors.forename: G P
authors.initials: GP
authors.lastname: Stoeber
mesh_terms: D000293:Adolescent; D001921:Brain / Q000002:abnormalities*; D002648:Child; D005260:Female; D006319:Hearing Loss, Sensorineural; D006801:Humans; D006849:Hydrocephalus; D008279:Magnetic Resonance Imaging; D013577:Syndrome