title: [Analysis of genetic penetrance in the pedigree of cases with Van der Woude syndrome: report of five cases].
abstract: 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.
authors.affiliation: Dicle Diyarbakir, Üniversitesi Tip Fakltesi, Diyarbakir, Turkey. drmbozkurt@yahoo.com
authors.forename: Mehmet
authors.initials: M
authors.lastname: Bozkurt
authors.forename: Emin
authors.initials: E
authors.lastname: Kapı
authors.forename: Yalçın
authors.initials: Y
authors.lastname: Külahçı
authors.forename: Fatih
authors.initials: F
authors.lastname: Zor
authors.forename: Erol
authors.initials: E
authors.lastname: Benlier
authors.forename: Mahmut
authors.initials: M
authors.lastname: Balkan
authors.forename: Nihal
authors.initials: N
authors.lastname: Kılınç
authors.forename: Necat
authors.initials: N
authors.lastname: Imirzalıoğlu
authors.forename: Samet Vasfi
authors.initials: SV
authors.lastname: Kuvat
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003560:Cysts / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling; D006801:Humans; D008046:Lip / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D055815:Young Adult