| Possible new autosomal recessive syndrome of congenital lymphoedema, nail dystrophy and esotropia in a Saudi family. | |
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MedLine Citation:
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PMID: 11236043 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Y Fatinni; A Asindi; Y Al Falki; A Al Harthi; S Al Fifi; S Al-Daama |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Acta paediatrica (Oslo, Norway : 1992) Volume: 90 ISSN: 0803-5253 ISO Abbreviation: Acta Paediatr. Publication Date: 2001 Feb |
Date Detail:
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Created Date: 2001-03-08 Completed Date: 2001-07-12 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9205968 Medline TA: Acta Paediatr Country: Norway |
Other Details:
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Languages: eng Pagination: 151-3 Citation Subset: IM |
Affiliation:
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Department of Child Health, College of Medicine, King Khalid University, Abha, Saudi Arabia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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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