[家族型弗雷泽综合征的表达性]。

Journal de genetique humaine Pub Date : 1989-06-01
J C Lambert, I Touitou, V Paquis, A M Saunières
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引用次数: 0

摘要

本文报道弗雷泽综合征的两例新病例。文献回顾表明,隐眼、并指畸形或内畸形的临床表现在家族内是非常稳定的。特别是严重形式的致命问题在最近详细尸检报告的每个家庭中都经常发生。这些结论将改变遗传咨询。一种致命形式的疾病会以同样的方式复发,可以通过超声检查显示生殖-泌尿畸形甚至胎儿镜检查并趾来检测。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Expressivity of familial forms of Fraser syndrome].

Two new cases of the Fraser syndrome are presented. The literature review indicates that the clinical expression inside families is very constant with regard to cryptophthalmos, syndactyly or internal malformations. Particularly the fatal issue of severe forms is regularly constant in each of the families recently reported with a detailed autopsy. These conclusion would change the genetic counseling. A lethal form of the disease would recur in the same manner and could be detected by exhibiting the genito-urinary malformations at ultrasonography or even the syndactyly at foetoscopy.

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