Calzavara Pinton P G, Gavazzoni R, Carlino A, Leali C
G Ital Dermatol Venereol. 1989 Apr;124(4):171-3.
The familial occurrence of lower lip pits (fistulae, sinuses) with or without the cheilo-gnathouranoschisis complex (cleft lip and/or cleft palate) was first described by A. Van der Woude in 1954. The lip pits syndrome is inherited as an autosomal dominant trait with high penetrance (80%), but its clinical expression is variable. Sometimes there may be microforms with only conical elevation and/or surface openings without any deeper sinuses at the typical sites and without cleft lip/palate. We examined 8 members of an Italian family and we observed one member with lip pits and submucous cleft palate and 4 members with only lip pits. Three of these affected members had congenital absence of second premolars too. The presentation, mode of inheritance, aetiology and genetic significance of lip pits syndrome are reviewed. In our opinion this is the first Italian report of the Van der Woude syndrome.
1954年，A. 范德伍德首次描述了下唇凹陷（瘘管、窦道）伴有或不伴有唇腭裂综合征（唇裂和/或腭裂）的家族性发病情况。唇凹陷综合征作为一种常染色体显性性状遗传，外显率较高（80%），但其临床表现具有变异性。有时可能存在微小型，仅在典型部位有圆锥形隆起和/或表面开口，没有任何较深的窦道，也没有唇裂/腭裂。我们检查了一个意大利家族的8名成员，发现一名成员有唇凹陷和黏膜下腭裂，4名成员仅有唇凹陷。这4名受影响的成员中有3名还先天性缺失第二前磨牙。本文对唇凹陷综合征的临床表现、遗传方式、病因及遗传学意义进行了综述。我们认为这是意大利关于范德伍德综合征的首例报告。
