一个家族中两例热内-维德曼型肢端面部发育不全的新观察——关于遗传方式的论述：两例同胞报告
A new observation of two cases of acrofacial dysostosis type Genée-Wiedemann in a family--remarks on the mode of inheritance: report on two sibs.
作者信息
Neumann L, Pelz J, Kunze J
机构信息
Institute of Human Genetics, Humboldt-University of Berlin, Germany.
出版信息
Am J Med Genet. 1996 Sep 6;64(4):556-62. doi: 10.1002/(SICI)1096-8628(19960906)64:4<556::AID-AJMG6>3.0.CO;2-N.
Abstract
We report on a Yugoslavian sibpair with postaxial acrofacial dysostosis type Genée-Wiedemann with some novel signs which broaden the spectrum of this syndrome. The manifestations of the present cases are compared with those of the previously described patients. Life expectancy, change of symptoms over time, and the mode of inheritance are discussed.
摘要
我们报告了一对患有Genée-Wiedemann型轴后性肢端面部发育不全的南斯拉夫同胞兄妹，他们有一些新的体征，拓宽了该综合征的范围。将本病例的表现与先前描述的患者的表现进行了比较。讨论了预期寿命、症状随时间的变化以及遗传方式。
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