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[Langer's type mesomelic dwarfism. Apropos of a case].

作者信息

Blanckaert D, Lepan P, Sauvage R, Walbaum R, Rémy J, Farriaux J P, Fontaine G

出版信息

Arch Fr Pediatr. 1978 Jan;35(1):37-52.

PMID:637660
Abstract

One case of Lnger's type mesomelic dwarfism is reported in a 7-day old newborn. Height retardation was severe and concerned essentially the middle segment of limbs. Cubituses and fibulae were hypoplastic. The inferior mandible was intact. No biological change was found. The genetic transmission could be either recessive autosomal (parents double-first cousins), or dominant autosomal with pleiotropic expression (the mother, and an aunt on the father's side presenting with dyschondrosteosis).

摘要

相似文献

1
[Langer's type mesomelic dwarfism. Apropos of a case].
Arch Fr Pediatr. 1978 Jan;35(1):37-52.
2
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[Langer's type mesomelic dysplasia].[朗格型中肢发育不全]
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Dominant mesomelic dwarfism of the hypoplastic tibia, radius type.发育不全性胫骨、桡骨型的显性中肢侏儒症。
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Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.兰格型中肢侏儒症可能是软骨发育不全的纯合子表现型。
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引用本文的文献

1
Mesomelic dysplasia--associated with other abnormalities.
Eur J Pediatr. 1981 Nov;137(3):313-6. doi: 10.1007/BF00443264.