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Case Reports
. 1990 Feb;35(2):153-6.
doi: 10.1002/ajmg.1320350202.

Geleophysic dysplasia

J E Wraith  1 , A Bankier, C W Chow, D M Danks, I B Sardharwalla
Affiliations
Case Reports

Geleophysic dysplasia

J E Wraith et al. Am J Med Genet. 1990 Feb.

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.

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