TEL-HASHOMER CAMPTODACTYLY SYNDROME

Tel Hashomer camptodactily syndrome in 2 siblings was described for th e first time in Russian literature. Together with camptodactility flex ion folds between phalanxes were absent in patients and characteristic face alterations were presented such as asymmetry, hypertelorism, ant imongolian ophtalmic eyes cut, high ridge of the nose. There were also observed diffuse skeletal musculature hypoplasia together with humero radial muscle aplasia as well as two-sides talipes. Inheritance type o f syndrome In this family was estimated as autosomal-recessive.