Document Detail


Restrictive dermopathy: a report of three cases.
MedLine Citation:
PMID:  2352259     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report three infants with a rare syndrome of restrictive dermopathy, in which rigidity of the skin at birth is associated with characteristic facial anomalies, generalised arthrogryposis, bony abnormalities, and lung hypoplasia. The skin has a distinctive pathology with compaction of the dermal collagen and fibrosis of the subcutaneous tissue. The inheritance is likely to be autosomal recessive and the condition appears to be fatal in the early neonatal period.
Authors:
Q Mok; R Curley; J L Tolmie; R A Marsden; M A Patton; E G Davies
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  27     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1990 May 
Date Detail:
Created Date:  1990-07-17     Completed Date:  1990-07-17     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  315-9     Citation Subset:  IM    
Affiliation:
Department of Child Health, St. George's Hospital Medical School, London.
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MeSH Terms
Descriptor/Qualifier:
Arthrogryposis / genetics*
Bone and Bones / abnormalities
Chromosome Aberrations*
Consanguinity
Facial Expression
Genes, Recessive
Humans
Infant, Newborn
Karyotyping
Lung / abnormalities
Male
Skin Diseases / genetics*
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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