Chudley-Mccullough syndrome: Expanded phenotype and review of the literature

Katherine Oelrich Welch, Mustafa Tekin, Walter E. Nance, Susan H Blanton, Kathleen S. Arnos, Arti Pandya

Research output: Contribution to journalArticle

12 Scopus citations

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.

Original languageEnglish
Pages (from-to)71-76
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume119 A
Issue number1
StatePublished - May 15 2003
Externally publishedYes

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Keywords

  • Autosomal recessive
  • Foramen of Monro
  • Hydrocephalus
  • Sensorineural hearing loss
  • Structural brain abnormalities

ASJC Scopus subject areas

  • Genetics(clinical)

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