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Van der Woude Syndrome. A Case Report
Author(s) -
Vignale Raúl,
Araujo Juan,
Pascal Gerardo,
Reissenweber Nelson,
Abulafia Jorge,
Quadrelli Roberto,
Vaglio Alicia,
Larrandaburo Mariela,
Reyno Soraya
Publication year - 1998
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1998.tb01395.x
Subject(s) - medicine , penetrance , lower lip , expressivity , anatomy , dermatology , surgery , genetics , phenotype , gene , biology
We describe several members of a family with Van der Woude syndrome, a genetic and congenital malformation syndrome with autosomal dominant inheritance and 70% to 80% penetrance with variable expressivity. It is characterized by clinical signs localized to the face, such as bilateral or unilateral pits on conical elevations in babies or extensive depressions in adults, both in the vermilion border of the lower lip, with cleft lip, with or without cleft palate and uvula. Small accessory or heterotopic salivary glands empty into sinuses or fistulas in the lips. This eight member family had various clinical signs of the condition. All had cleft lip and palate. We studied the major characteristics of the eight patients and describe histopathologic and immunohistochemical features.