Camptomelic Dysplasia: A Case Study

Camptomelic dysplasia (CMD) is a congenital shortlimb skeletal dysplasia characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract. Perinatal and early neonatal death from respiratory failure is common. Diagnosis and long-term management of the infant with CMD require a coordinated effort among many specialists. This article presents a general overview of skeletal dysplasias and camptomelic dysplasia. It concludes with a case study illustrating the many problems infants with CMD may have and the complex treatment and follow-up services they require.