纳热尔肢体颜面发育不全：轻度至中度受累母亲及致死性短肢畸形儿子的常染色体显性遗传。
Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son.
作者信息
Hall B D
机构信息
Department of Pediatrics, University of Kentucky, Lexington 40536.
出版信息
Am J Med Genet. 1989 Jul;33(3):394-7. doi: 10.1002/ajmg.1320330321.
PMID:2801774
Abstract
A mild to moderately affected mother with Nager acrofacial dysostosis produced a severely affected phocomelic son. This apparent autosomal dominant transmission and the extreme variability dictates a reassessment of the genetics of Nager acrofacial dysostosis.
摘要
一位患有纳格尔肢端颜面发育不全症、症状为轻度至中度的母亲生下了一个患有严重短肢畸形的儿子。这种明显的常染色体显性遗传以及极大的变异性表明需要重新评估纳格尔肢端颜面发育不全症的遗传学。
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