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Axenfeld–Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome
Author(s) -
Maclean Kenneth,
Smith James,
Heaps Luke St.,
Chia Nicole,
Williams Rebecca,
Peters Gregory B.,
Onikul Ella,
McCrossin Tim,
Lehmann Ordan J.,
Adès Lesley C.
Publication year - 2005
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.30274
Subject(s) - hypoplasia , microdeletion syndrome , cerebellar hypoplasia (non human) , corpus callosum , phenotype , brainstem , hearing loss , hydrocephalus , medicine , biology , anatomy , cerebellum , genetics , neuroscience , gene , audiology , radiology
Deletion of distal 6p is associated with a distinctive clinical phenotype including Axenfeld–Rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We report the case of a child where recognition of the specific ocular and facial phenotype, led to identification of a 6p microdeletion arising from a de novo 6:18 translocation. Detailed analysis confirmed deletion of the FOXC1 forkhead gene cluster at 6p25. CNS anomalies included hydrocephalus and hypoplasia of the cerebellum, brainstem, and corpus callosum with mild to moderate developmental delay. Unlike previous reports, hearing was normal. © 2005 Wiley‐Liss, Inc.