Martelli-Junior Hercílio, Chaves Marcelo Reis, Swerts Mário Sérgio Oliveira, de Miranda Roseli Teixeira, Bonan Paulo Rogério Ferreti, Coletta Ricardo D
Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
Cleft Palate Craniofac J. 2007 May;44(3):239-43. doi: 10.1597/06-064.
This report describes the clinical and genetic features of two large and unrelated families with Van der Woude syndrome in Brazil, emphasizing the range of anomalies found within and between the families.
Family 1 included 54 descendants spanning five generations, with 12 (22.23%) individuals manifesting Van der Woude syndrome. In family 2, examinations comprised 17 descendants distributed over four generations, and 8 (47.06%) people presented features of Van der Woude syndrome.
In family 1, the first two generations were not affected, but the other three generations had affected members showing a unique association of lip pits and cleft lip/palate with equilibrated gender distribution. In family 2, all generations were affected, and the clinical expression of disease was heterogeneous, including members with isolated clefts, isolated lip pits, and association of cleft lip/palate with lip pits. In both families, affected members transmitted their traits to descendants in an autosomal dominant mode of inheritance with apparent low penetrance in family 1, but high penetrance in family 2. Patients were treated surgically by cheiloplasty and/or palatoplasty with satisfactory results.
Van der Woude syndrome was transmitted by an autosomal dominant pattern with variable expressivity and penetrance and equilibrated gender distribution. Physicians should be aware of the variety of malformations that can be associated with Van der Woude syndrome. Genetic counseling in Van der Woude syndrome affected families is important, because a high percentage of descendants can have some kind of clefting.
本报告描述了巴西两个患范德伍德综合征且无亲缘关系的大家族的临床和遗传特征，重点阐述了家族内部及家族之间发现的一系列异常情况。
家族1包括五代共54名后代，其中12人（22.23%）表现出范德伍德综合征。在家族2中，检查涵盖四代共17名后代，其中8人（47.06%）呈现出范德伍德综合征的特征。
在家族1中，前两代未受影响，但其他三代有患病成员，表现为唇凹与唇腭裂的独特关联，且性别分布均衡。在家族2中，所有世代均受影响，疾病的临床表型具有异质性，包括单纯腭裂、单纯唇凹以及唇腭裂合并唇凹的成员。在两个家族中，患病成员均以常染色体显性遗传模式将性状传递给后代，在家族1中表现为明显的低外显率，而在家族2中则为高外显率。患者接受了唇成形术和/或腭裂修复术治疗，效果良好。
范德伍德综合征以常染色体显性模式遗传，具有可变的表达性和外显率，且性别分布均衡。医生应了解与范德伍德综合征相关的各种畸形。对范德伍德综合征患者家族进行遗传咨询很重要，因为很大比例的后代可能会出现某种形式的腭裂。
