Bozkurt Mehmet, Kapı Emin, Külahçı Yalçın, Zor Fatih, Benlier Erol, Balkan Mahmut, Kılınç Nihal, Imirzalıoğlu Necat, Kuvat Samet Vasfi
Dicle Diyarbakir, Üniversitesi Tip Fakltesi, Diyarbakir, Turkey.
Kulak Burun Bogaz Ihtis Derg. 2010 Jul-Aug;20(4):200-4.
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.
范德伍德综合征是一种先天性异常疾病，其特征为下唇出现唇囊肿、副唾液腺、凹陷、瘘管和正中旁窦，且常伴有唇腭裂。这种疾病是最常见的综合征性腭裂异常。该疾病由单个基因异常导致，影响颅面形态发生。它具有常染色体显性遗传，涉及1q32 - 41染色体位点。然而，基因表达谱存在差异，在一些个体中该疾病可能仅表现为下唇窦。我们展示了对5例范德伍德综合征家系的遗传外显率分析结果，并对相关文献进行了综述。
