Prenatal diagnosis of type A1 brachydactyly
Prenatal diagnosis of type A1 brachydactyly
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DOI：
10.1046/j.1469-0705.2001.00428.x
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发表时间：
2001-06-01
影响因子：
7.1
通讯作者：
Wladimiroff, JW
中科院分区：
文献类型：
--
作者：
den Hollander, NS;Hoogeboom, AJM;Wladimiroff, JW
短指畸形可以作为一个孤立的畸形或作为许多综合征的一部分发生。产前评估短指畸形可能特别有助于手和/或手指异常相关的多种异常综合征。分离型Al型短指畸形是一种常染色体显性遗传病，手指和脚趾的所有中指骨均受影响。我们提出一个胎儿与A1型短指从母亲和祖母遗传。
Brachydactyly can occur as an isolated malformation or as parr of numerous syndromes. Prenatal assessment of brachydactyly may be especially helpful in multiple anomaly syndromes associated with hand and/or finger anomalies. Tn isolated type Al brachydactyly, which is an autosomal dominant disorder, all middle phalanges of the fingers and toes are affected. We present a fetus with type A1 brachydactyly inherited from the mother and grandmother.