The Tel Hashomer camptodactyly syndrome: report of a new case and review of the literature.
We report on a new case of Tel Hashomer camptodactyly syndrome and review the literature. This syndrome is characterized by skeletal dysplasia, muscle hypoplasia, camptodactyly, and abnormal dermatoglyphics. The inheritance is autosomal recessive with probable partial expression in the heterozygote.
Pagnan
N A
NA
Departamento de Biologia, Universidade de São Paulo, Brasil.
Gollop
T R
TR
Lederman
H
H
D003878:Dermatoglyphics; D005146:Facial Asymmetry; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D009135:Muscular Diseases / Q000150:complications; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*