title: Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.
abstract: We describe two brothers with Chudley-McCullough syndrome who are 5 and 17 years old. They were born to healthy consanguineous parents of Pakistani descent. They had severe sensorineural deafness and neuroimaging showed corpus callosum agenesis and other structural brain abnormalities. The Chudley-McCullough syndrome is an autosomal recessive disorder, first described by Chudley et al. [1997: Am J Med Genet 68:350-356]. The original description of the syndrome includes hydrocephalus due to obstruction of the foramen of Monro and early-onset severe to profound sensorineural deafness. We review the findings in the two patients we describe, four children reported in the literature and two patients reported by Hendriks et al. [1999: Am J Med Genet 86:183-186] with sensorineural deafness, corpus callosum agenesis, and interhemispheric cysts, who may well have Chudley-McCullough syndrome. All patients had sensorineural deafness. The neuroimagings of all eight patients showed colpocephaly, which is most likely caused by corpus callosum agenesis. Three patients had other structural brain abnormalities: cortical dysplasia and gray matter heterotopia. We suggest a revision of the clinical description since the most likely basic developmental defect is corpus callosum agenesis and not foramen of Monro obstruction.
authors.affiliation: Department of Medical Genetics, The John F. Kennedy Institute, Gl. Landevej 7, DK-2600 Glostrup, Denmark. els@kennedy.dk
authors.forename: Elsebet
authors.initials: E
authors.lastname: Østergaard
authors.forename: Vibeke Faurholt
authors.initials: VF
authors.lastname: Pedersen
authors.forename: Elisabeth B
authors.initials: EB
authors.lastname: Skriver
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
mesh_terms: D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D002540:Cerebral Cortex / Q000473:pathology*; D002675:Child, Preschool; D003337:Corpus Callosum / Q000254:growth & development; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008297:Male; D010641:Phenotype; D035781:Siblings; D013577:Syndrome