Abbo O, Vaysse F, Bieth E, Galinier P
Service de chirurgie viscérale, hôpital des enfants de Toulouse, CHU de Toulouse, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France.
Service de chirurgie viscérale, hôpital des enfants de Toulouse, CHU de Toulouse, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France.
Ann Chir Plast Esthet. 2014 Feb;59(1):81-4. doi: 10.1016/j.anplas.2011.09.005. Epub 2011 Oct 19.
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.
范德伍德综合征是已知的口腔腭裂的首个综合征性病因。除腭裂外，主要体征为下唇凹陷和牙发育不全。IRF6基因突变最近被确定为该综合征的潜在病因，这有助于更好地理解其表型异质性。基于文献综述，我们试图涵盖该综合征的不同方面，重点是唇凹陷的遗传咨询和手术矫正。
