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伴有骨骺异常、侏儒症和畸形的家族性骨盆-肩胛发育不良:一种新综合征?(作者译)

[Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)].

作者信息

Cousin J, Walbaum R, Cegarra P, Huguet J, Louis J, Pauli A, Fournier A, Fontaine G

出版信息

Arch Fr Pediatr. 1982 Mar;39(3):173-5.

PMID:7103674
Abstract

A North African brother and his sister, whose parents were first cousins, presented with the same disorder. It consisted of congenital dwarfism, facial dysmorphy and several skeletal anomalies including bilateral agenesis of the ala of scapula and hypoplasia of the ala of ilium and acetabulum, responsible for hip dislocation. No similar case was found in the literature. A recessive autosomal transmission of the disease is suggested.

摘要

一名北非男子及其妹妹患有相同病症,他们的父母是近亲。病症包括先天性侏儒症、面部畸形以及多种骨骼异常,如双侧肩胛骨翼缺如、髂骨翼和髋臼发育不全,后者导致髋关节脱位。文献中未发现类似病例。提示该病为常染色体隐性遗传。

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