A Case Report of Van der Woude Syndrome

Lee, Seung Chan; Kang, Yang Soo; Lee, Myung Ju; Lee, Chang Keun; Yang, Jeong Yeol

Abstract

Van der Woude syndrome is a rare developmental malformation characterized by pits in the lower lip, usually bilateral and located on either side of the midline. Van der Woude syndrome is accompanied with cleft lip with or without cleft palate, bifid uvula and hypodontia or missing incisors and premolars. It was first described by Van der Woude in 1954. It is inherited as an autosomal dominant syndrome with an estimated prevalence of 1 in 100,000~200,000 live births. The syndrome affects both sexes with variable expressivity and estimated penetrance close to 100%. The treatment of choice, but only for esthetic purposes is surgical excision. We experienced a case of newborn baby who had two pits in the lower lip of the midline and left side, with complete cleft lip and palate on the Rt. side. The midline sinus showed papilla like protrusion. The orifice was situated to the lip pit on the midline and the tract was about 4 mm in length. The lip pits were excised under general anesthesia with Millard II rotation advancement flap for cleft lip and primary rhinoplasty at 5 months. Histologic finding from excised lip pits showed multiple mucin-producing minor salivary glands with epithelial hyperplasia. And so we could diagnose Van der Woude syndrome. There was no reccurrence or developmental abnormality postoperatively after 1 year follow-up.