Brief clinical report: Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes

T. Lerman-Sagie, Y. Levi, D. Kidron, M. Grunebaum, M. Nitzan

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)137-142
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume28
Issue number1
DOIs
StatePublished - 1987
Externally publishedYes

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