父子に認められた先天性下唇瘻の症例

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  • A case of familial congenital fistulae of the lower lip
  • フシ ニ ミトメラレタ センテンセイ シタクチビルロウ ノ ショウレイ

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Congenital lower lip fistula is a rare deformity. Symmetrical lower lip fistulae with concomitant cleft lip, palate, or both characterize Van der Woude syndrome (VWS), one of the autosomal dominant disorder syndromes. However, cases associated with only lip fistulae without any other physical anomalies have been infrequently reported in VWS. We describe a 12-year-old girl and her father who had congenital fistulae of the lower lip with no other general anomalies. We suspected a diagnosis of VWS based on familial congenital deformity. The fistulae were removed cosmetically, and the results satisfied both us and the patient.

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