Document Detail


A severe case of oculo-ectodermal syndrome?
MedLine Citation:
PMID:  12072796     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a child with features of the oculo-ectodermal syndrome, who in addition to the cardinal manifestations of cutis aplasia and epibulbar dermoid had a number of other features. These include laryngomalacia, an anterior anus, microcephaly and significant developmental delay. The parents are of New Zealand Maori ancestry and are related as half first cousins, raising the possibility that this syndrome may be recessively inherited.
Authors:
Paul A James; Julie McGaughran
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  11     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-06-19     Completed Date:  2002-12-04     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  179-82     Citation Subset:  IM    
Affiliation:
Northern Regional Genetic Service, Auckland, New Zealand. pjames@adhb.govt.nz
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Ectoderm*
Eye Abnormalities / pathology*
Female
Genes, Recessive
Humans
Infant
Infant, Newborn
Male
Pedigree
Syndrome

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


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