Campomelic dwarfism.
The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism. It is characterized by bowed lower limbs, especially the tibia, usually associated with a cutaneous dimple over the anterior skin. There is delayed calcification of the epiphyses and delayed mineralization of the spine and pelvis. The cartilages of the tracheobronchial tree are hypoplastic, contributing to death from respiratory problems. Other associated abnormalities are unusual appearing facies, cleft palate, absent olfactory nerves and talipes equinovarus. Less commonly seen are cardiac, renal and brain anomalies.
D000328:Adult; D001132:Arm; D001847:Bone Diseases / Q000150:complications / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D005145:Face; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007866:Leg; D008297:Male; D011859:Radiography; D013577:Syndrome