期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 111, 期 2, 页码 182-186出版社
WILEY-LISS
DOI: 10.1002/ajmg.10493
关键词
Axenfeld-Rieger anomaly; Axenfeld-Rieger syndrome; heart valves defects; sensorineural hearing loss; glaucoma
Axenfeld-Rieger anomaly (ARA) is an autosomal dominant disorder of the anterior chamber of the eye that includes a prominent and anteriorly displaced Schwalbe line and an iridocorneal synechiae, and is associated with iris hypoplasia, corectopia, and hole formation. Extraocular developmental abnormalities, especially of the teeth, facial bones, and periumbilical. skin, have also been reported with ARA, in the context of the so-called Axenfeld-Rieger syndrome (ARS). Genetic heterogeneity exists, as ARA maps to chromosome 6p25, whereas ARS can be linked to both chromosome 4q25 and chromosome 13q14. Here we describe a new family in which ARA is associated with cardiac malformations and sensorineural hearing loss. No abnormalities of the teeth, facial bone, or periumbilical skin, which are considered of paramount importance in the diagnosis of ARS, were observed in our patients. Genetic studies will clarify if these patients represent a unique phenotypic expression of ARS or constitute the clinical presentation of a new genetic syndrome. (C) 2002 Wiley-Liss, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据