[Analysis of genetic penetrance in the pedigree of cases with Van der Woude syndrome: report of five cases].
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.
Bozkurt
Mehmet
M
Dicle Diyarbakir, Üniversitesi Tip Fakltesi, Diyarbakir, Turkey. drmbozkurt@yahoo.com
Kapı
Emin
E
Külahçı
Yalçın
Y
Zor
Fatih
F
Benlier
Erol
E
Balkan
Mahmut
M
Kılınç
Nihal
N
Imirzalıoğlu
Necat
N
Kuvat
Samet Vasfi
SV
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