Document Detail


Van der Woude syndrome in twins.
MedLine Citation:
PMID:  16192887     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
This article discusses monozygotic twin patients with Van der Woude syndrome, the most common form of syndromic cleft lip and palate, who have concordant manifestations. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with clinical features, including lower lip sinuses with a cleft lip, cleft palate, or both. Some mutations have been found to cause this disorder. Genetic counseling and informing patients about inheritance is crucial. The appearance, etiology, genetic aspects, differential diagnosis, and treatment modalities are discussed. To the authors' knowledge, this is the third report of monozygotic concordant twins with this syndrome in the literature.
Authors:
Cenk Tokat; Ufuk Bilkay; Ecmel Songur; Yalcin Akin
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  The Journal of craniofacial surgery     Volume:  16     ISSN:  1049-2275     ISO Abbreviation:  J Craniofac Surg     Publication Date:  2005 Sep 
Date Detail:
Created Date:  2005-09-29     Completed Date:  2005-12-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9010410     Medline TA:  J Craniofac Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  936-9     Citation Subset:  D    
Affiliation:
Ege University Plastic and Reconstructive Surgery Department, Bornova-Izmir, Turkey. cenktokat@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Cleft Lip / genetics*
Cleft Palate / genetics*
Diseases in Twins*
Follow-Up Studies
Genes, Dominant / genetics
Humans
Lip / abnormalities*,  pathology
Male
Penetrance
Salivary Glands, Minor / pathology
Syndrome
Twins, Monozygotic* / genetics

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


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