[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. 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.
Service de chirurgie viscérale, hôpital des enfants de Toulouse, CHU de Toulouse, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France. Electronic address: olivier.abbo@gmail.com.
O
O
Abbo
Service de chirurgie viscérale, hôpital des enfants de Toulouse, CHU de Toulouse, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France.
F
F
Vaysse
Laboratoire de génétique médicale Pr-Calvas, hôpital Purpan, CHU de Toulouse, 330, avenue de Grande-Bretagne, TSA 40031, 31059 Toulouse cedex 9, France.
E
E
Bieth
Service de chirurgie viscérale, hôpital des enfants de Toulouse, CHU de Toulouse, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France.
P
P
Galinier
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000601:surgery; D002971:Cleft Lip / Q000175:diagnosis / Q000601:surgery; D002972:Cleft Palate / Q000175:diagnosis / Q000601:surgery; D003560:Cysts / Q000175:diagnosis / Q000601:surgery; D006801:Humans; D007223:Infant; D008046:Lip / Q000002:abnormalities* / Q000601:surgery; D008297:Male; D010641:Phenotype