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新型常染色体隐性面指生殖器综合征

New autosomal recessive faciodigitogenital syndrome.

作者信息

Teebi A S, Naguib K K, Al-Awadi S, Al-Saleh Q A

机构信息

Kuwait Medical Genetics Centre, Maternity Hospital.

出版信息

J Med Genet. 1988 Jun;25(6):400-6. doi: 10.1136/jmg.25.6.400.

Abstract

Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed.

摘要

大多数阿尔斯kog面部-指-生殖器综合征的家系提示为X连锁遗传。然而,在一些家族中,性影响常染色体显性遗传也有可能。我们描述了一个阿拉伯家庭,父母为正常近亲,育有五个孩子(三个男孩和两个女孩),这些孩子除了有一些不寻常的毛发变化外,还具有阿尔斯kog综合征的一些特征。本文提出并讨论了这个家族可能代表一种以前未被认识的、伴有身材矮小和毛发异常的独特面部-指-生殖器综合征的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/474c4196d21c/jmedgene00068-0040-a.jpg

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