[Van der Woude syndrome: An unrecognised clinical entity]

Ann Chir Plast Esthet. 2014 Feb;59(1):81-4. doi: 10.1016/j.anplas.2011.09.005. Epub 2011 Oct 19.
[Article in French]

Abstract

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.

Keywords: Conseil génétique; Genetic counselling; IRF6; Syndrome de Van der Woude; Van der Woude syndrome.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • 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

Supplementary concepts

  • Van der Woude syndrome