摘要
唇窝是较少见的先天畸形,唇窝单独或与唇腭裂联合表现者称Van der Woude综合征。本文报道中国6个系谱中8例综合征患者;并提出在唇腭裂患者中的临床发病率为0.43%。本征属常染色体显性遗传,显性基因外显率(K)为0.89或0.99,基因突变率为1.8×1.0^(-5)。
Three patients with lip pits among 701 cases (0.43%) with clefts were treated in Beijing Stomatological Hospital in last five years. Genetic analysis of cases in 5 families with Van der Woude syndrome (Lip pits, deft lip and cleft palate) in China was studied. We report on three unrelated families from the Beijing area, other three families from the Hebei, Heilongjang, Gansu province, in which the autosomal dominant gene for Van der Woude syndrome is segregating. All three or one of the clinical features may occur in an affected individual who carries the gene, Two probands had ankyloglossia. Six members were missing upper lateral incisors. One proband was missing second premolars. Six members were cross-bite. Two probands bad congenital fistula of the mouth angle.
