Literature DB >> 6507495

Geleophysic dysplasia.

J Spranger, E F Gilbert, S Arya, G M Hoganson, J M Opitz.   

Abstract

On the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good-natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmission.

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Year:  1984        PMID： 6507495     DOI： 10.1002/ajmg.1320190310

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


  9 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  Spherophakia, nanophthalmia, hypoplastic ciliary body and glaucoma in brachydactyly-associated syndromes.

Authors:  T S Dietlein; H Mietz; P C Jacobi; G K Krieglstein
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1996-08       Impact factor: 3.117

3.  Acromicric dysplasia and geleophysic dysplasia: similarities and differences.

Authors:  R C Hennekam; Y van Bever; J W Oorthuys
Journal:  Eur J Pediatr       Date:  1996-04       Impact factor: 3.183

4.  Moore-Federman syndrome and acromicric dysplasia: are they the same entity?

Authors:  R M Winter; M A Patton; J Challener; R F Mueller; M Baraitser
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

Review 5.  Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.

Authors:  Dirk Hubmacher; Suneel S Apte
Journal:  Cell Mol Life Sci       Date:  2011-08-20       Impact factor: 9.261

6.  An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.

Authors:  Hannah L Bader; Alison L Ruhe; Lauren W Wang; Aaron K Wong; Kari F Walsh; Rebecca A Packer; Jonathan Mitelman; Kathryn R Robertson; Dennis P O'Brien; Karl W Broman; G Diane Shelton; Suneel S Apte; Mark W Neff
Journal:  PLoS One       Date:  2010-09-17       Impact factor: 3.240

7.  Narrow trachea in mucopolysaccharidoses.

Authors:  M E Peters; S Arya; L O Langer; E F Gilbert; R Carlson; W Adkins
Journal:  Pediatr Radiol       Date:  1985

8.  Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.

Authors:  Dena R Matalon; David A Stevenson; Elizabeth J Bhoj; Avni B Santani; Beth Keena; Meryl S Cohen; Angela E Lin; Sarah E Sheppard; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2021-03-08       Impact factor: 2.802

9.  Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.

Authors:  Dirk Hubmacher; Lauren W Wang; Robert P Mecham; Dieter P Reinhardt; Suneel S Apte
Journal:  Dis Model Mech       Date:  2015-03-11       Impact factor: 5.758
  9 in total

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