Van der Woude syndrome: An unrecognised clinical entity

Van der Woude syndrome is known to be the first syndromic cause of oral cleft. Apart clefts the cardinal signs are lower lip pits and hypodontia. IRF6 gene mutations have been recently identified as potential cause in this syndrome which permits to better understand its phenotype heterogeneity. Base...

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Published inAnnales de chirurgie plastique et esthétique Vol. 59; no. 1; pp. 81 - 84
Main Authors Abbo, O, Vaysse, F, Bieth, E, Galinier, P
Format Journal Article
LanguageFrench
Published France 01.02.2014
Subjects
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - surgery
Cleft Lip - diagnosis
Cleft Lip - surgery
Cleft Palate - diagnosis
Cleft Palate - surgery
Cysts - diagnosis
Cysts - surgery
Humans
Infant
Lip - abnormalities
Lip - surgery
Male
Phenotype
Van der Woude syndrome
IRF6
Conseil génétique
Syndrome de Van der Woude
Genetic counselling
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Summary:Van der Woude syndrome is known to be the first syndromic cause of oral cleft. Apart clefts the cardinal signs are lower lip pits and hypodontia. IRF6 gene mutations have been recently identified as potential cause in this syndrome which permits to better understand its phenotype heterogeneity. Based on a literature review, we tried to cover the different aspects of this syndrome with an emphasis on genetic counselling and surgical correction of lip pits.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
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ObjectType-Report-3
ObjectType-Case Study-4
ISSN:1768-319X
DOI:10.1016/j.anplas.2011.09.005