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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).

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