Document Detail


Ambras syndrome: report on two affected siblings with no prior family history.
MedLine Citation:
PMID:  15365467     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report two siblings with congenital generalized hypertrichosis and distinctive facial appearance consistent with the dysmorphic facial features described in Ambras syndrome. The patients were born to non-consanguineous, phenotypically normal parents. This is the first report of affected siblings and could be explained by either autosomal recessive inheritance or by germline mosaicism for an autosomal dominant gene. We compared the phenotype of our patients to descriptions of reported cases and discuss phenotypic variability.
Authors:
Valerica Belengeanu; Kinga Rozsnyai; Cristina Gug; Mariana Bănăţeanu; Simona Farcaş; Alina Belengeanu
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  13     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2004 Oct 
Date Detail:
Created Date:  2004-09-14     Completed Date:  2005-03-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  265-7     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, University of Medicine and Pharmacy, Timişoara, Romania. belvtim@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Facies
Female
Genes, Recessive
Humans
Hypertrichosis / genetics,  physiopathology*
Infant

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


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