Sclerosteosis: Neurogenetic and pathophysiologic analysis of an american kinship

Stuart A. Stein, Carl Witkop, Suvimol Hill, Michael D. Fallon, Lawrence Viernstein, Gunduz Gucer, Paul McKeever, Donlin Long, Jeremy Altman, Neil R. Miller, Steven L. Teitelbaum, Sandra Schlesinger

Research output: Contribution to journalArticlepeer-review

Abstract

We studied an American kinship with sclerosteosis, an autosomal-recessive disorder of bone remodeling and bone overgrowth of the calvaria, skull base, and tubular bones. Unlike osteopetrosis, which is attributed to abnormal immune and osteoclast function as well as bone resorption, sclcrosteosis appears to be primarily a disorder of osteoblast (bone formation) hyperactivity. Related to cranial vascular and neural foraminal narrowing and reduced intracranial volume, affected patients with sclerosteosis demonstrate frequent seventh nerve palsy, progressive optic and cranial neuropathics, mixed hearing loss, brainstem compression, intracranial hypertension with increased elastance, and sudden, premature death. Management should involve early childhood identification of homozygotes, monitoring and aggressive treatment of intracranial hypertension, and extensive bone removal from skull, posterior fossa, and cervical spine.

Original languageEnglish (US)
Pages (from-to)267-277
Number of pages11
JournalNeurology
Volume33
Issue number3
DOIs
StatePublished - Mar 1983

ASJC Scopus subject areas

  • Clinical Neurology

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