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Chudley‐McCullough syndrome: Expanded phenotype and review of the literature
Author(s) -
Welch Katherine Oelrich,
Tekin Mustafa,
Nance Walter E.,
Blanton Susan H.,
Arnos Kathleen S.,
Pandya Arti
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10180
Subject(s) - medicine , hydrocephalus , foramen , agenesis of the corpus callosum , anatomy , arachnoid cyst , congenital hydrocephalus , corpus callosum , pathology , cyst , surgery
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. © 2003 Wiley‐Liss, Inc.