PDF(Pubmed)
Abstract：
BACKGROUND: Van der Woude syndrome (VWS) is a rare congenital malformation characterized by lower lip pits among patients with a lip and/or palate cleft. It is transmitted by an autosomal dominant inheritance with variable expressivity.
METHODS: The study group consisted of 24 consecutive patients (13 males and 11 females) with VWS operated on at a single center between 2009 and 2022. They suffered from: bilateral cleft lip and palate - 6 patients; unilateral cleft lip and palate - 9 patients; cleft lip - 1 patient; and isolated cleft palate - 8 patients.
RESULTS: In 16 (66%) cases pits of lower lip occurred on both side of midline, while in 8 (34%) the pits were detected unilaterally. The primary cleft repairs were performed according to one-stage principle at the mean age of 8.6 months (SD 1.4, range 6-12). In all patients lower lip pits repairs were performed after the primary cleft repairs as a separate procedure at the mean age of 37 months (SD 11.3 range 14-85). The mean number of all primary repairs of the syndrome-both cleft defect and lower lip pits repairs-was 2.46. Nine patients (37.5%) required additional secondary corrections of the lower lip due to the poor aesthetic post-operative outcome.
CONCLUSIONS: The frequent need for secondary corrections of residual lower lip deformities indicates the considerable difficulties in obtaining a satisfactory outcome of the repairs to lip pits caused by VWS. The average number of the primary surgical interventions in evaluated material remained low.
METHODS: The study group consisted of 24 consecutive patients (13 males and 11 females) with VWS operated on at a single center between 2009 and 2022. They suffered from: bilateral cleft lip and palate - 6 patients; unilateral cleft lip and palate - 9 patients; cleft lip - 1 patient; and isolated cleft palate - 8 patients.
RESULTS: In 16 (66%) cases pits of lower lip occurred on both side of midline, while in 8 (34%) the pits were detected unilaterally. The primary cleft repairs were performed according to one-stage principle at the mean age of 8.6 months (SD 1.4, range 6-12). In all patients lower lip pits repairs were performed after the primary cleft repairs as a separate procedure at the mean age of 37 months (SD 11.3 range 14-85). The mean number of all primary repairs of the syndrome-both cleft defect and lower lip pits repairs-was 2.46. Nine patients (37.5%) required additional secondary corrections of the lower lip due to the poor aesthetic post-operative outcome.
CONCLUSIONS: The frequent need for secondary corrections of residual lower lip deformities indicates the considerable difficulties in obtaining a satisfactory outcome of the repairs to lip pits caused by VWS. The average number of the primary surgical interventions in evaluated material remained low.
摘要：
背景：VanderWoude综合征（VWS）是一种罕见的先天性畸形，其特征是唇和/或腭裂患者的下唇凹陷。它通过具有可变表达的常染色体显性遗传传播。
方法：研究组由24名连续患者（13名男性和11名女性）组成，在2009年至2022年期间在一个中心进行了VWS手术。他们患有：双侧唇腭裂-6例；单侧唇腭裂-9例；唇裂-1例；孤立性腭裂-8例。
结果：在16例（66％）中，中线两侧出现下唇凹陷，而在8个（34％）的凹坑是单方面检测到的。根据一阶段原则，在平均年龄8.6个月（SD1.4，范围6-12）进行了初次裂隙修复。在所有患者中，在平均年龄为37个月（SD11.3，范围为14-85）的初次唇裂修复后，作为单独的程序进行了下唇窝修复。该综合征的所有主要修复-裂隙缺损和下唇窝修复-的平均数量为2.46。9名患者（37.5％）由于术后美学效果不佳，需要对下唇进行额外的二次矫正。
结论：经常需要对残余下唇畸形进行二次矫正，这表明在获得VWS引起的唇凹修复的满意结果方面存在相当大的困难。评估材料中主要手术干预的平均数量仍然很低。
方法：研究组由24名连续患者（13名男性和11名女性）组成，在2009年至2022年期间在一个中心进行了VWS手术。他们患有：双侧唇腭裂-6例；单侧唇腭裂-9例；唇裂-1例；孤立性腭裂-8例。
结果：在16例（66％）中，中线两侧出现下唇凹陷，而在8个（34％）的凹坑是单方面检测到的。根据一阶段原则，在平均年龄8.6个月（SD1.4，范围6-12）进行了初次裂隙修复。在所有患者中，在平均年龄为37个月（SD11.3，范围为14-85）的初次唇裂修复后，作为单独的程序进行了下唇窝修复。该综合征的所有主要修复-裂隙缺损和下唇窝修复-的平均数量为2.46。9名患者（37.5％）由于术后美学效果不佳，需要对下唇进行额外的二次矫正。
结论：经常需要对残余下唇畸形进行二次矫正，这表明在获得VWS引起的唇凹修复的满意结果方面存在相当大的困难。评估材料中主要手术干预的平均数量仍然很低。
