Literature DB >> 2090119

Geleophysic dysplasia.

J E Wraith1, A Bankier, C W Chow, D M Danks, I B Sardharwalla.   

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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Year:  1990        PMID： 2090119     DOI： 10.1002/ajmg.1320350202

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography.

Authors:  Santina Ermito; Angela Dinatale; Sabina Carrara; Alessandro Cavaliere; Laura Imbruglia; Stefania Recupero
Journal:  J Prenat Med       Date:  2009-04

2.  Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.

Authors:  L Faivre; M Le Merrer; C Baumann; M Polak; P Chatelain; V Sulmont; J Cousin; M Bost; M P Cordier; E Zackai; K Russell; G Finidori; J C Pouliquen; A Munnich; P Maroteaux; V Cormier-Daire
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

3.  Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect.

Authors:  Pasquale Piccolo; Valeria Sabatino; Pratibha Mithbaokar; Elena Polishchuk; John Hicks; Roman Polishchuk; Carlos A Bacino; Nicola Brunetti-Pierri
Journal:  Mol Genet Genomic Med       Date:  2019-07-27       Impact factor: 2.183
  3 in total

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