Ioan D M, Belengeanu V, Maximilian C, Fryns J P
Department of Clinical Genetics, Institute of Endocrinology GJ Parhon, Bucharest.
Clin Genet. 1993 Jun;43(6):300-2. doi: 10.1111/j.1399-0004.1993.tb03822.x.
A family is reported in which camptodactyly, club foot, pectus excavatum and undescended testes are transmitted as an autosomal dominant with reduced penetrance and variable expressivity, affecting 13 members through five generations. Penetrance is more reduced in females than in males and asymptomatic carriers are always females. Similar findings were previously described in two other families reported by Gordon et al. (1962) and Halal & Fraser (1979).
据报道，有一个家族中，屈曲指、马蹄内翻足、漏斗胸和隐睾症以常染色体显性遗传的方式传递，其外显率降低且表现度可变，五代中有13名成员受影响。女性的外显率比男性降低得更多，且无症状携带者均为女性。戈登等人（1962年）和哈勒尔与弗雷泽（1979年）报道的另外两个家族也有类似发现。
