E-ISSN 2602-4837
The Turkish Journal of Ear Nose and Throat Analysis of genetic penetrance in the pedigree of cases with Van der Woude syndrome: report of five cases [Tr-ENT]
Tr-ENT. 2010; 20(4): 200-204

Analysis of genetic penetrance in the pedigree of cases with Van der Woude syndrome: report of five cases

Mehmet Bozkurt1, Emin Kapı, Yalçın Külahçı, Fatih Zor, Erol Benlier, Mahmut Balkan, Nihal Kılınç, Necat İmirzalıoğlu, Samet Vasfi Kuvat

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.

Keywords: Genetic; lip diseases; pedigree; Van derWoude.

Van der Woude sendromlu olgularımızın soyağacında genetik penetransın analizi: Beş olgu sunumu

Mehmet Bozkurt1, Emin Kapı, Yalçın Külahçı, Fatih Zor, Erol Benlier, Mahmut Balkan, Nihal Kılınç, Necat İmirzalıoğlu, Samet Vasfi Kuvat

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Anahtar Kelimeler: Genetik; dudak hastalıkları; soyağacı;Van der Woude.

Mehmet Bozkurt, Emin Kapı, Yalçın Külahçı, Fatih Zor, Erol Benlier, Mahmut Balkan, Nihal Kılınç, Necat İmirzalıoğlu, Samet Vasfi Kuvat. Analysis of genetic penetrance in the pedigree of cases with Van der Woude syndrome: report of five cases. Tr-ENT. 2010; 20(4): 200-204

Corresponding Author: Mehmet Bozkurt
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