An autosomal dominant inherited syndrome with congenital stapes ankylosis
An autosomal dominant inherited syndrome with congenital stapes ankylosis
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伴有先天性镫骨强直的常染色体显性遗传综合征
DOI：
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发表时间：
1990
期刊：
影响因子：
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通讯作者：
C. Cremers
中科院分区：
文献类型：
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作者：
B. Teunissen;C. Cremers
报告了一种新发现的常染色体显性遗传综合征，与先天性传导性耳聋、远视、宽拇指、宽第一趾、短远端指骨和并指（趾）畸形相关。传导性丧失是先天性镫骨强直的结果，在两个病例中，与砧窝中的砧骨短突强直有关。镫骨切除术改善了这些患者的听力。颈椎融合也是一个相关特征。
A newly recognized autosomal dominant inherited syndrome associated with congenital conductive deafness, hy‐peropia, broad thumbs, broad first toes, short distal phalanges, and syndactyly is reported. The conductive loss was the result of congenital stapes ankylosis and, in two cases, was associated with ankylosis of the short process of the incus in the fossa incudis. Stapedectomy improved hearing in these patients. Fused cervical vertebrae are also an associated feature.