兰格型中肢侏儒症可能是软骨发育不全的纯合子表现型。
Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.
作者信息
Fryns J P, Van Den Berghe H
出版信息
Hum Genet. 1979 Jan 19;46(1):21-7. doi: 10.1007/BF00278898.
PMID:429003
Abstract
A male newborn with the typical Langer type of mesomelic dwarfism is presented. The finding of a variable degree of Madelung's deformity and mesomelic shortening in both parents and in the maternal family tends to support the hypothesis that this type of mesomelic dwarfism may be the clinical manifestation of a homozygous state for dyschondrosteosis.
摘要
本文报告了一名患有典型Langer型中肢侏儒症的男性新生儿。在父母双方及母系家族中均发现不同程度的马德隆畸形和中肢短缩，这一发现倾向于支持以下假说，即这种类型的中肢侏儒症可能是骨软骨发育异常纯合状态的临床表现。
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