期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 140A, 期 18, 页码 1955-1959出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.31411
关键词
Rieger syndrome; epiphyseal dysplasia; 6p25 microdeletion
The 6p25 microdeletion syndrome comprises the Axenfeld-Rieger eye anomaly in association with a characteristic facies, developmental delay, hearing loss, and organ malformations. Skeletal anomalies in the form of hemivertebrae, Clubfeet, and other positional joint anomalies have also been described in some patients. We report on a patient with a 2.2-2.4 Mb terminal microdeletion of the short arm of chromosome 6 who in addition had abnormalities of the proximal femoral and humeral epiphyses. We suggest that an epiphyseal dysplasia may be an additional clinical component of the 6p25 microdeletion syndrome. (c) 2006 Wiley-Liss, Inc.
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