Sclerosteosis: Report of a case in a black African man

Clinical Genetics

Volumn 53, Issue 6, 1998, Pages 497-501

  Tacconi, Paolo ^a   Ferrigno, Paola ^a   Cocco, Luigi ^a   Cannas, Antonino ^a   Tamburini, Giorgio ^c   Bergonzi, Paolo ^b   Giagheddu, Marcello ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b UNIVERSITY OF UDINE   (Italy)

^c Ospedale S Giovanni di Dio ^*

Author keywords

Bone dysplasias; Cranial nerves neuropathy; Craniotubular hyperostoses; Sclerosteosis

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CRANIAL NEUROPATHY; EVOKED AUDITORY RESPONSE; EVOKED BRAIN STEM RESPONSE; FACIAL NERVE PARALYSIS; HUMAN; LONG BONE; MALE; NAIL DYSPLASIA; NEGRO; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; OSTEOSCLEROSIS; PELVIS; PRIORITY JOURNAL; RADIODIAGNOSIS; RIB; SENEGAL; SKULL; SYNDACTYLY; TALL STATURE; TRIGEMINUS NEURALGIA;

EID: 0031869163     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02603.x     Document Type: Article

References (17)

1. OMIM™ Online Mendelian Inheritance in Man. Center for Medical Genetics. Johns Hopkins University (Baltimore. MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 1996. World Wide Web URL: http://www3.ncbi.nlm.nih.gov/Omim/
2. Truswell AS. Osteopetrosis with syndactyly. A morphological variant of Albers Schönberg disease. J Bone Joint Surg (Br) 1958: 40: 208-218.
3. Hausen HG. Sklerosteose. In: Opitz J, Schmid F, eds. Handbuch der Kinderheilkunde, vol. 6. Berlin, New York: Springer, 1967: 351-355.
4. Beighton P, Durr L, Hamersma H. The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals. Ann Intern Med 1976: 84: 393-397.
5. Beighton P, Davidson J, Durr L, Hamersma H. Sclerosteosis - an autosomal recessive disorder. Clin Genet 1977: 11: 1-7.
6. Beighton P, Barnard A, Hamersma H, van der Wouden A. The syndromic status of sclerosteosis and van Buchem disease. Clin Genet 1984: 25: 175-181.
7. Beighton P. Sclerosteosis. J Med Genet 1988: 25: 200-203.
8. Sugiura YT, Yasuhara T. Sclerosteosis: a case report. J Bone Joint Surg 1975: 57A: 273-276.
9. de Paes Alves AF, Rubim JLC, Cardoso L, Rabelo MM. Sclerosteosis: a marker of Dutch ancestry? Braz J Genet 1982: V: 825-834
10. Higinbotham NL, Alexander SF. Osteopetrosis: four cases in one family. Am J Surg 1941: 53: 444-454.
11. Stein SA, Witkop C, Hill S, Fallon MD, Viernstein L, Gucer G, McKeever P, Long D, Altman J, Miller NR, Teitelbaum SL, Schlesinger S. Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship. Neurology 1983: 33: 267-277.
12. Bueno M, Olivan G, Jimenez A, Garagorri JM, Sarria A, Bueno AL, Bueno M, Ramos FJ. Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin. J Med Genet 1994: 31: 976-977.
13. Beighton P, Cremin BJ, Hamersma H. The radiology of Sclerosteosis. Br J Radiol 1976: 49: 934-939.
14. Beighton P, Hamersma H. Sclerosteosis in South Africa. S Afr Med J 1979: 55: 783-788.
15. van Buchem FSP, Nadders HN, Ubbens R. An uncommon familial systemic disease of the skeleton. Hyperostosis corticalis generalisata familiaris. Acta Radiol 1955: 42: 109-120.
16. Kelley CH, Lawlah JW. Albers-Schönberg disease - a family survey. Radiology 1946: 47: 507-510.
17. Hill SC, Stein SA, Dweyer A, Altman J, Dorwart R, Doppman J. Cranial CT findings in Sclerosteosis. Am J Neuroradiol 1986: 7: 505-511.