2 research outputs found
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.ASSOC MATERN São Paulo,SERV GENET HUMANA,R TABAPUA 649,CJ 44,BR-04533 São Paulo,SP,BRAZILUNIV São Paulo,INST BIOCIENCIAS,DEPT BIOL,São Paulo,SP,BRAZILESCOLA PAULISTA MED,DEPT DIAGNOST IMAGEM,BR-04023 São Paulo,SP,BRAZILESCOLA PAULISTA MED,DEPT DIAGNOST IMAGEM,BR-04023 São Paulo,SP,BRAZILWeb of Scienc