一种具有异常皮纹的显性遗传型先天性多发性关节挛缩症。

A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermatoglyphics.

作者信息

Sack G H

出版信息

Clin Genet. 1978 Dec;14(6):317-23. doi: 10.1111/j.1399-0004.1978.tb02096.x.

DOI:10.1111/j.1399-0004.1978.tb02096.x

Abstract

A father and daughter with arthrogryposis multiplex congenita and similar dermatoglyphic patterns are described. No evidence was found of chromosomal abnormality, neuropathy or myopathy, and there were no other affected family members. The findings are compatible with autosomal dominant inheritance.

摘要

本文描述了一对患有先天性多发性关节挛缩症且皮纹模式相似的父女。未发现染色体异常、神经病变或肌病的证据，且无其他受影响的家庭成员。这些发现符合常染色体显性遗传。