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[拉森综合征。临床发现与遗传(作者译)]

[Larsen's syndrome. Clinical findings and inheritance (author's transl)].

作者信息

Renault F, Arthuis M, Rethoré M O, Lafourcade J

出版信息

Arch Fr Pediatr. 1982 Jan;39(1):35-8.

PMID:7065820
Abstract

Three new case reports of Larsen's syndrome (multiple congenital dislocations of the joints, distinctive facies and skeletal abnormalities) are presented. For the first time this condition is described to be associated with deafness and retinal dysplasia. Data in the literature show this syndrome to be inherited as sporadic, autosomal recessive or dominant. The 3 reported cases seem to have and autosomal recessive inheritance.

摘要

本文报告了3例拉森综合征(多关节先天性脱位、特殊面容及骨骼异常)的新病例。首次报道该病症与耳聋和视网膜发育异常相关。文献数据表明,该综合征的遗传方式为散发性、常染色体隐性或显性遗传。所报道的3例病例似乎呈常染色体隐性遗传。

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