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一种伴有骨骺生长紊乱的常染色体隐性遗传先天性糖尿病综合征(作者译)

[A syndrome of congenital diabetes with disordered epiphyseal growth with autosomal recessive inheritance (author's transl)].

作者信息

Goumy P, Maroteaux P, Stanescu V, Stanescu R, Labbe A, Menut G

出版信息

Arch Fr Pediatr. 1980 May;37(5):323-8.

PMID:7469709
Abstract

A child is described with insulin dependent diabetes of neonatal onset and a disorder of endochondral growth. Radiological and histological bone appearances differ from those observed in other types of chondrodysplasia. The association of diabetes and chondrodysplasia is not likely to occur by chance but is probably a genuine clinical entity. The condition is probably inherited as a autosomal recessive and its possible pathogenesis is discussed.

摘要

本文描述了一名患有新生儿期起病的胰岛素依赖型糖尿病和软骨内生长障碍的儿童。其骨骼的放射学和组织学表现与其他类型的软骨发育异常不同。糖尿病与软骨发育异常的关联不太可能是偶然发生的,而可能是一种真实的临床实体。这种疾病可能以常染色体隐性方式遗传,并对其可能的发病机制进行了讨论。

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