Malpuech syndrome: Three patients and a review
Malpuech syndrome: Three patients and a review
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Malpuech 综合征：三名患者和回顾
DOI：
10.1002/ajmg.a.30662
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发表时间：
2005
期刊：
影响因子：
--
通讯作者：
A. van Essen
中科院分区：
文献类型：
--
作者：
W. Kerstjens;H. Brunner;C. V. van Dael;A. van Essen
我们描述了来自两个家庭的三名马尔普埃奇综合征患者。此前，已有来自6个家庭的10名患者被报道。两个家族的近亲结婚表明常染色体隐性遗传。生长迟缓、智力低下、唇裂和/或腭裂、距离过远、泌尿生殖系统异常和尾附属器是主要特征。尽管报告的患者的特征范围各不相同，但我们确实认为这种综合征代表了一个独特的实体。应仔细寻找染色体异常。我们讨论了鉴别诊断和可能的候选基因，并提出了 Malpuech 综合征的诊断标准。 © 2005 Wiley-Liss, Inc.
We describe three patients with Malpuech syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital abnormalities, and caudal appendage are the key features. Although the spectrum of the features in the reported patients is variable, we do think this syndrome represents a distinct entity. Chromosomal anomalies should be carefully searched for. We discuss differential diagnosis and possible candidate genes and propose diagnostic criteria for Malpuech syndrome. © 2005 Wiley‐Liss, Inc.