HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Stein, S. A. Articles by Schlesinger, S. Search for Related Content PubMed PubMed Citation Articles by Stein, S. A. Articles by Schlesinger, S.

Sclerosteosis

Nemogenetic and pathophysiologic analysis of an American kinship

Genetics and Biochemistry Branch. National Institute of Arthritis, Diabetes, Digestive, and Kidney Diseases (Dr. Stein); the Division of Radiology (Dr. Hilll. Office of the Director (Ms. Sandra Schlesingert. the Clinical Center; the Section of Surgical Neurology (Dr. McKeever), National Institute of Neurological and Communicative Disorders; National Institute of Health, Bethesda, MD; the Departments of Neurology (Dr. Stein), Neurosurgery (Drs. Long. Gucer, and Viernstein), Radiology (Ur. Altman), and Ophthalmology tDr. Miller), the Johns Hopkins Hospital, Baltimore, MD; the Department of Oral Pathology and Genetics, the University of Mlnnesuta School of Dentistry (Dr. Witkop), Minneapolis, MN; and the Department of Pathology, Division of Bone and Mineral Metabolism (Drs. Fallon and Teitelbaum). Washington University School of Medicine, St. Louis, MO.

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 foramina1 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.

Address correspondence and reprint requests to Dr. Stein. Building 10, Room 9D-06, NIADDK, NIH, 9000 Rockville Pike, Bethesda, MD 20205.

This work was supported by protocols of the NIADDK and the National Institute of Dental Research and NIH grants Nos. GM 22167. NS5 2332, and DE 05413.

Accepted for publication July 7, 1982.

This article has been cited by other articles:

				M. Wengenroth, G. Vasvari, P. A. Federspil, J. Mair, P. Schneider, and C. Stippich Case 150: Van Buchem Disease (Hyperostosis Corticalis Generalisata) Radiology, October 1, 2009; 253(1): 272 - 276. [Full Text] [PDF]

				P. t. Dijke, C. Krause, D. J. J. de Gorter, C. W.G.M. Lowik, and R. L. van Bezooijen Osteocyte-Derived Sclerostin Inhibits Bone Formation: Its Role in Bone Morphogenetic Protein and Wnt Signaling J. Bone Joint Surg. Am., February 1, 2008; 90(Supplement_1): 31 - 35. [Abstract] [Full Text] [PDF]

				R. L. van Bezooijen, S. E. Papapoulos, N. A. Hamdy, P. ten Dijke, and C. W. Lowik Control of Bone Formation by Osteocytes? Lessons from the Rare Skeletal Disorders Sclerosteosis and van Buchem Disease IBMS BoneKEy, December 1, 2005; 2(12): 33 - 38. [Full Text] [PDF]

				J. C. Gardner, R. L. van Bezooijen, B. Mervis, N. A. T. Hamdy, C. W. G. M. Lowik, H. Hamersma, P. Beighton, and S. E. Papapoulos Bone Mineral Density in Sclerosteosis; Affected Individuals and Gene Carriers J. Clin. Endocrinol. Metab., December 1, 2005; 90(12): 6392 - 6395. [Abstract] [Full Text] [PDF]

				B. Sevetson, S. Taylor, and Y. Pan Cbfa1/RUNX2 Directs Specific Expression of the Sclerosteosis Gene (SOST) J. Biol. Chem., April 2, 2004; 279(14): 13849 - 13858. [Abstract] [Full Text] [PDF]

				R. L. van Bezooijen, B. A.J. Roelen, A. Visser, L. van der Wee-Pals, E. de Wilt, M. Karperien, H. Hamersma, S. E. Papapoulos, P. ten Dijke, and C. W.G.M. Lowik Sclerostin Is an Osteocyte-expressed Negative Regulator of Bone Formation, But Not a Classical BMP Antagonist J. Exp. Med., March 15, 2004; 199(6): 805 - 814. [Abstract] [Full Text] [PDF]

				J. E. Wergedal, K. Veskovic, M. Hellan, C. Nyght, W. Balemans, C. Libanati, F. M. Vanhoenacker, J. Tan, D. J. Baylink, and W. Van Hul Patients with Van Buchem Disease, an Osteosclerotic Genetic Disease, Have Elevated Bone Formation Markers, Higher Bone Density, and Greater Derived Polar Moment of Inertia than Normal J. Clin. Endocrinol. Metab., December 1, 2003; 88(12): 5778 - 5783. [Abstract] [Full Text] [PDF]

				W Balemans, N Patel, M Ebeling, E Van Hul, W Wuyts, C Lacza, M Dioszegi, F G Dikkers, P Hildering, P J Willems, et al. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease J. Med. Genet., February 1, 2002; 39(2): 91 - 97. [Abstract] [Full Text] [PDF]

				W. Balemans, M. Ebeling, N. Patel, E. Van Hul, P. Olson, M. Dioszegi, C. Lacza, W. Wuyts, J. Van Den Ende, P. Willems, et al. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST) Hum. Mol. Genet., March 1, 2001; 10(5): 537 - 543. [Abstract] [Full Text] [PDF]

				R. S. Wilson, D. A. Bennett, D. W. Gilley, L. A. Beckett, J. A. Schneider, and D. A. Evans Progression of parkinsonian signs in Alzheimer's disease Neurology, March 28, 2000; 54(6): 1284 - 1289. [Abstract] [Full Text] [PDF]