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Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation. The condition has been described only in 20 children of Afrikaans‐speaking parents in South Africa. This is the first report of a non‐Afrikaans patient with this genetic entity. © 1996 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case

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References (4)

Publisher
Wiley
Copyright
Copyright © 1996 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/(SICI)1096-8628(19960111)61:2<131::AID-AJMG5>3.0.CO;2-#
pmid
8669438
Publisher site
See Article on Publisher Site

Abstract

This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation. The condition has been described only in 20 children of Afrikaans‐speaking parents in South Africa. This is the first report of a non‐Afrikaans patient with this genetic entity. © 1996 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics Part AWiley

Published: Nov 11, 1996

Keywords: ; ; ;

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