In most chondrodystrophies, x-rays of the long bones are needed for accurate diagnosis. Hypothyroidism should be ruled out. Treatment is supportive. Truncal shortening and limb contractures are often present. Bony changes are not apparent in newborns and develop as growth occurs.
Fractures can occur in utero and during delivery.
Trauma during delivery may lead to intracranial hemorrhage and stillbirth. Infants born alive may die suddenly during the first few days or weeks. Survivors develop shortened extremities and other bony deformities. Mental development is normal unless CNS injury occurs. The sclerae are thin, translucent, and appear blue.