遗传性中胚皮营养不良症

F. H. Kemp, D. Wilson, W. Fish, W. Stobie
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引用次数: 1

摘要

在伯克郡Sunningwell教区的调查过程中,发现某些家族“H”成员传递中胚层组织营养不良,这在早期通过蓝色硬化,韧带松弛和骨质脆性的发生来识别,并且在青春期通过耳聋(耳硬化)的发作来识别。遗传模式见附图,举报人是第5号的寡妇。II - 8-自死亡以来-和No. 8。三世3。当后者回忆起她24年前在牛津眼科医院的检查时,她与之前一篇论文的作者(Stobie, 1924)取得了联系,该论文描述了在所有被证明属于“H”族的村民中出现的蓝色硬化、骨质脆性和进行性耳聋综合症。本来文涉及最近在“H”家庭中进行的临床和社会调查,因为这影响到他们的家族疾病的预后。住在桑宁维尔教区78号的H家族的亲属和亲戚。在最近一次(1937年)的人口普查中,这个教区的人口是637人。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Hereditary Mesodermal Dystrophy
In the course of investigations in Sunningwell parish, Berkshire, certain members of family " H " were found to transmit the dystrophy of mesodermal tissue which is recognized at an early age by' the occurrence of blue sclerotics, laxity of ligaments, and brittle bones, and during adolescence by the onset of deafness (otosclerosis). The mode of heredity is shown in the accompanying diagram, the informants being the widow of No. II 8-since deceased-and No. III 3. When the latter recalled her examination at the Oxford Eye Hospital twentyfour years earlier, contact became possible with the author of a previous paper (Stobie, 1924), describing the syndrome of blue sclerotics, brittle bones, and progressive deafness amongst villagers who have all proved to belong to the " H " kindred. The present communication deals with a recent clinical and social enquiry amongst the " H " family in so far as this affects the prognosis of their familial disorder. The kindred and affinals of family " H " living in-Sunningwell parish number 78. The population of the parish at the last (1937) census was 637.
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