Van der Woude syndrome is a congenital abnormality
characterized by labial cysts, accessory salivary
glands, pits, fistulas and paramedian sinuses of the
lower lips, and is frequently associated with cleft lip
and palate. This disease is the most common syndromic
cleft abnormality. The disease is characterized
by a single gene abnormality where craniofacial
morphogenesis is affected. It has an autosomal
dominant inheritance with involvement of 1q32-41
chromosomal locus. However, the gene expression
profile is variable and the disease may present in
some individuals with sinuses of the lower lips only.
We present results of analysis of genetic penetrance
in the pedigree of five cases with Van der Woude
syndrome together with a review of the literature.
FREE FULL TEXTAnahtar Kelimeler: Genetik; dudak hastalıkları; soyağacı;Van der Woude.