Van der Woude syndrome. A case report.
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.
Vignale
R
R
Departamento de Dermatología y Cirugía Plástica, Hospital de Pediatría Pereira Rossell, Ministerio de Salud Publica, Montevideo, Uruguay.
Araujo
J
J
Pascal
G
G
Reissenweber
N
N
Abulafia
J
J
Quadrelli
R
R
Vaglio
A
A
Larrandaburo
M
M
Reyno
S
S
D002971:Cleft Lip / Q000235:genetics*; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007223:Infant; D008046:Lip / Q000002:abnormalities* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome