Camptomelic dysplasia syndrome

The camptomelic dysplasia syndrome is a rare skeletal dysplasia which includes, in addition to typical angulations of long bones, other skeletal abnormalities and visceral lesions, particularly those of the brain and of the respiratory tract. Respiratory disorders often lead to death in early infancy. Its etiology has not yet been determined. In this article, a case with a bowing of the upper extremities has been presented.