Document Detail


Possible new autosomal recessive syndrome of congenital lymphoedema, nail dystrophy and esotropia in a Saudi family.
MedLine Citation:
PMID:  11236043     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
This paper presents a family case of two brothers and two sisters with congenital lower limb lymphoedema, nail dystrophy, and with esotropia in two of them. They are offspring of healthy parents who are first cousins. This combination of congenital lymphoedema, nail dystrophy and esotropia in this sibship differs from other reported cases of congenital lymphoedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.
Authors:
Y Fatinni; A Asindi; Y Al Falki; A Al Harthi; S Al Fifi; S Al-Daama
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992)     Volume:  90     ISSN:  0803-5253     ISO Abbreviation:  Acta Paediatr.     Publication Date:  2001 Feb 
Date Detail:
Created Date:  2001-03-08     Completed Date:  2001-07-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9205968     Medline TA:  Acta Paediatr     Country:  Norway    
Other Details:
Languages:  eng     Pagination:  151-3     Citation Subset:  IM    
Affiliation:
Department of Child Health, College of Medicine, King Khalid University, Abha, Saudi Arabia.
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MeSH Terms
Descriptor/Qualifier:
Child
Chromosome Aberrations / genetics
Chromosome Disorders
Consanguinity
Esotropia / complications*,  congenital,  genetics*
Female
Humans
Lymphedema / complications*,  congenital,  genetics*
Nails, Malformed*
Saudi Arabia

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


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