Document Detail

Restrictive dermopathy in two sisters.
MedLine Citation:
PMID:  14515974     Owner:  NLM     Status:  MEDLINE    
Restrictive dermopathy (RD) is a very rare and lethal congenital skin disease. It is inherited by an autosomal recessive pattern with characteristic features of abnormally rigid skin, generalized joint contractures (arthrogryposis), and dysmorphic facies consisting of downward slanting eyes, a small pinched nose, low-set ears, a fixed open mouth in the O-position, and micrognathia. We report on 2 siblings from consecutive pregnancies affected with RD. They died of possible sepsis and respiratory insufficiency at 6 and 8 days after birth, respectively. This kind of stiff skin defect may lead to a fetal akinesia/hypokinesia deformation sequence, which causes the facial abnormalities of RD, as presented in these cases.
Jia-Woei Hou; Chien-Fang Mai
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Chang Gung medical journal     Volume:  26     ISSN:  2072-0939     ISO Abbreviation:  Chang Gung Med J     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-09-30     Completed Date:  2003-11-07     Revised Date:  2008-12-16    
Medline Journal Info:
Nlm Unique ID:  101088034     Medline TA:  Chang Gung Med J     Country:  China (Republic: 1949- )    
Other Details:
Languages:  eng     Pagination:  510-4     Citation Subset:  IM    
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taipei, Taiwan, ROC.
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MeSH Terms
Abnormalities, Multiple
Infant, Newborn
Infant, Premature
Skin Abnormalities / genetics*,  pathology

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