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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship.

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, sclerosteosis 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 neuropathies, 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.[1]


  1. Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship. Stein, S.A., Witkop, C., Hill, S., Fallon, M.D., Viernstein, L., Gucer, G., McKeever, P., Long, D., Altman, J., Miller, N.R., Teitelbaum, S.L., Schlesinger, S. Neurology (1983) [Pubmed]
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