Glass L, Stewart R E, Miles J
J Speech Hear Disord. 1979 Nov;44(4):472-8. doi: 10.1044/jshd.4404.472.
A family report of three generations of Van der Woude syndrome (cleft lip or palate and lip pits) is presented to show that the speech-language pathologist may play an important role in identifying patients with this defect. Understanding the genetic basis of this syndrome and documentation of family history through pedigree analysis can be instrumental in identifying other family members potentially affected with speech disorders. Because the diagnosis of Van der Woude syndrome was made in one member of the family in the pedigree, three other family members who had never received previous diagnosis or treatment of their speech disorders were identified. Other family members were referred for genetic counseling. The concepts of autosomal dominant transmission, variable expression, incomplete penetrance, and the pedigree technique for recording family history are also presented.
本文报告了一个患有范德伍德综合征（唇腭裂和唇凹）的三代家族病例，以表明言语病理学家在识别患有这种缺陷的患者方面可能发挥重要作用。了解该综合征的遗传基础并通过系谱分析记录家族史有助于识别其他可能受言语障碍影响的家庭成员。由于在系谱中的一名家族成员中诊断出范德伍德综合征，因此确定了另外三名从未接受过言语障碍诊断或治疗的家族成员。其他家庭成员被转介接受遗传咨询。文中还介绍了常染色体显性遗传、可变表达、不完全外显率以及记录家族史的系谱技术等概念。
