Abstract

Skeletal dysplasias are hereditary diseases which are characterized with abnormally developed bones and connective tissues. Camptomelic dysplasia is a very rare skeletal dysplasia characterised by lethal outcome mainly during the neonatal period. This skletal dysplasia is characterized by bowed extremites most often of tibiae, scapula and clavicula hypoplasia, and vertebral abnormalities. Diagnosis of camptomelic dysplasia is usually based on clinical and radiographic findings. In many cases of camptomelic dysplasia, death occurs in the neonatal period due to breathing problems related to small chest size. We reported a newborn with camptomelic dysplasia diagnosed because of skeletal abnormalities.