Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes.

We describe an infant with cerebro-oculo-facio-skeletal manifestations, radiologic and pathologic findings of osteopetrosis, and severe myopathic degeneration proven on histopathologic study of muscles. The muscle changes appear to be part of the pathogenetic process in this syndrome and the cause of the flexion contractures present at birth. Real-time ultrasonography may prove a useful tool in prenatal diagnosis of this syndrome.