伴有先天性镫骨固定、拇指宽大及远视的常染色体显性综合征。
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.
作者信息
Hilhorst-Hofstee Y, Watkin P M, Hall C M, Baraitser M
机构信息
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
出版信息
Clin Dysmorphol. 1997 Jul;6(3):195-203. doi: 10.1097/00019605-199707000-00001.
A family is reported with conductive hearing loss, hyperopia, broad thumbs and broad first toes. The family resembles a previous reported family (Teunissen B, Cremers CWRJ (1990) Laryngoscope 100: 380-384) but additionally all affected members have a typical face. Overlap of the Teunissen and Cremers syndrome with the facio-audio-symphalangism syndrome and proximal symphalangism is discussed.
据报道，有一个家族存在传导性听力损失、远视、拇指宽阔和第一趾宽阔的情况。该家族与之前报道的一个家族相似（特尼斯森B，克雷默斯CWRJ（1990年）《喉镜》100：380 - 384），但除此之外，所有受影响的成员都有一张典型的面容。文中讨论了特尼斯森和克雷默斯综合征与面-听-指关节融合综合征以及近端指关节融合的重叠情况。
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