TY - JOUR
T1 - Axenfeld-Rieger malformation and distinctive facial features
T2 - Clues to a recognizable 6p25 microdeletion syndrome
AU - Maclean, Kenneth
AU - Smith, James
AU - St. Heaps, Luke
AU - Chia, Nicole
AU - Williams, Rebecca
AU - Peters, Gregory B.
AU - Onikul, Ella
AU - McCrossin, Tim
AU - Lehmann, Ordan J.
AU - Adès, Lesley C.
PY - 2005/2/1
Y1 - 2005/2/1
N2 - 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.
AB - 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.
KW - 6p25 deletion
KW - Axenfeld-Rieger syndrome
KW - Cerebellar hypoplasia
KW - FOXC1
KW - Pulmonary stenosis
UR - http://www.scopus.com/inward/record.url?scp=19944431348&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30274
DO - 10.1002/ajmg.a.30274
M3 - Article
C2 - 15654696
AN - SCOPUS:19944431348
VL - 132 A
SP - 381
EP - 385
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
SN - 1552-4825
IS - 4
ER -