| Increased parental age and number of pregnancies in Klippel-Trenaunay-Weber syndrome. | |
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MedLine Citation:
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PMID: 9803268 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The Klippel-Trenaunay-Weber syndrome (KTWS) is generally thought to occur sporadically, following a somatic mutation model. However, in some cases, clinical manifestations of the syndrome have been found in family members, suggesting an autosomal dominant inheritance. Here we present an epidemiological analysis of a consecutive series of cases with KTWS identified in the Spanish Collaborative Study of Congenital Malformations (ECEMC). We found an increase in parental age and in the number of pregnancies, as well as familial occurrence of haemangiomas. These observations suggest a genetic contribution to the occurrence of KTWS. |
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Authors:
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I Lorda-Sanchez; L Prieto; E Rodriguez-Pinilla; M L Martinez-Frias |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Annals of human genetics Volume: 62 ISSN: 0003-4800 ISO Abbreviation: Ann. Hum. Genet. Publication Date: 1998 May |
Date Detail:
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Created Date: 1999-01-07 Completed Date: 1999-01-07 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0416661 Medline TA: Ann Hum Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 235-9 Citation Subset: IM |
Affiliation:
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Servicio de Genetica Fundación Jimenez-Diaz, Madrid, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Female Humans Klippel-Trenaunay-Weber Syndrome / epidemiology, genetics* Male Maternal Age* Parity* Paternal Age* Prevalence |
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