Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia

Clinical Features

Goodman et al. (1972) described this combination in 2 sisters and a brother from unaffected first-cousin, Iranian-Jewish parents. The brother was referred at age 19 for possible Marfan syndrome. At age 7 patent ductus arteriosus (see 607411) was ligated. The nose in all 3 affected sibs was broad with flaring nostrils. The facial appearance differed from that of unaffected sibs. Skeletal anomalies in all 3 included scoliosis, arachnodactyly, and hammertoes.