Van der Woude syndrome. A case report

We describe several members of a family with Van der Woude syndrome, a gene tic and congenital malformation syndrome with autosomal dominant inheritanc e and 70% to 80% penetrance with variable expressivity. It is characterized by clinical signs localized to the face, such as bilateral or unilateral p its on conical elevations in babies or extensive depressions in adults, bot h in the vermilion border of the lower lip, with cleft lip, with or without cleft palate and uvula. Small accessory or heterotopic salivary glands emp ty into sinuses or fistulas in the lips. This eight member family had vario us clinical signs of the condition. All had cleft lip and palate. We studie d the major characteristics of the eight patients and describe histopatholo gic and immunohistochemical features.