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弹力纤维发育异常

Geleophysic dysplasia.

作者信息

Wraith J E, Bankier A, Chow C W, Danks D M, Sardharwalla I B

机构信息

Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, Australia.

出版信息

Am J Med Genet. 1990 Feb;35(2):153-6. doi: 10.1002/ajmg.1320350202.

Abstract

We describe 2 children with geleophasic dysplasia. Prominent cardiac disease in one of the patients caused death at an early age. The history of consanguinity in one of the families supports autosomal recessive mode of inheritance. Histological and ultrastructural changes suggest that a disturbance in the relations between cell membrane and extracellular matrix may be involved in the pathogenesis.

摘要

我们描述了2例患有胶状发育异常的儿童。其中1例患者有显著的心脏疾病,早年死亡。其中一个家族的近亲结婚史支持常染色体隐性遗传模式。组织学和超微结构变化提示细胞膜与细胞外基质之间关系的紊乱可能参与了发病机制。

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