Diagnostic approach to congenital osteochondrodysplasias at autopsy

Abstract Individual congenital disorders of bone and cartilage are rare but as a group they are not uncommon. The incidence of osteochondrodysplasias is 2–5 in 10 000 liveborn. Approximately 50 of the known 370 skeletal malformations are lethal. The frequency in perinatal autopsies is approximately 1–2 in 100. For a proper diagnosis X-rays (both anteroposterior and lateral), storage of DNA and, in case of an autopsy, histology of bone and cartilage are necessary. Classification of the osteochondro-dysplasias is based on a combination of radiological abnormalities and the molecular defect. The most common lethal osteochondrodysplasias are briefly discussed with examples of both radiology and histology.