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Osteopetrosis: review of dominant cases and frequency in a Brazilian State

Published online by Cambridge University Press:  01 August 2014

Francisco M. Salzano*
Affiliation:
Departamento de Genética, Instituto de Ciências Naturais, Universidade do Rio Grande do Sul, Pôrto Alegre, Brazil

Summary

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Eleven reports of osteopetrosis due to dominant genes (table 1) establish in a firm basis the existence of such a genetic variant. By personal interview with all radiologists and orthopedists of Pòrto Alegre and larger Rio Grande do Sul cities, an estimate of 1: 100,000 was obtained for the frequency of osteopetrosis in this Brazilian State.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1961

References

Bonomini, B. and Gregoris, L. 1951: Nuovo tipo di osteopetrosi generalizzata familiare. Acta Med. Pat., 12(9): 377394.Google Scholar
Cocchi, U. 1950: Sippentafel bei Marmorknochenerkrankung mit dominantem polyphänem Erbgang. Fortschr. Röntgenstr., 73(1): 7785.Google Scholar
Falls, H. F. 1953: Skeletal system, including joints. In: Sorsby, A. Clinical Genetics C. V. Mosby, St. Louis, U. S. A. Google Scholar
Gates, R. R. 1946: Human Genetics. Mc Millan, New York.Google Scholar
Ghormley, R. K. 1922: A case of congenital osteosclerosis. Johns Hopkins Hosp. Bull., 33(382): 444446.Google Scholar
Haniiart, E. 1948: Über die Genetik der einfach-rezessiven Formen der Marmorknochenkrankheit und zwei entsprechende Stammbäume aus der Schweiz. Helvet. Paed. Acta, 3(2): 113125.Google Scholar
Harnapp, G. O. 1937: Zum Bilde der Marmorknochenkrankheit. Die familiäre, gutartige Form der diffusen Osteosklerose. Monatschr. für Kinderheilk., 69: 1.Google Scholar
Heine, J. 1941: Beitrag zur Marmorknochenkrankheit. Fortschr. Röntgenstr., 64(2): 121130.Google Scholar
Hesseling, W. 1948/1949: Zur Klinik und Erbbiologie der Marmorknochenkrankheit. Monatschr. für Kinderheilk., 96(5): 195201.Google Scholar
Ilha, D. O. and Salzano, F. M. 1961: A roentgenologic and genetic study of a rare osseous distrophy. Acta Genet. Med. Gemellol., this issue.Google Scholar
Karsiiner, R. G. 1926: Osteopetrosis. Amer. Jour. Roentgen, and Rad. Therapy, 16(5): 405419.Google Scholar
Klein, A. 1952: Zur Frage der Erblichkeit der Marmorknochenkrankheit. Fortschr. Röntgenstr., 76(3): 366371.Google Scholar
Lauterburg, W. 1931: Über zwei Fälle von familiärer, generalisierter Osteosklerose. Deutsch. Z. Chir., 230: 308. Cited in Cocchi (1950).Google Scholar
Mc Kusick, V. A. 1956: Heritable disorders of connective tissue. C. V. Mosby Co., St. Louis, U. S. A. Google Scholar
Me Peak, C. N. 1936: Osteopetrosis. Report of eight cases occurring in three generations of one family. Amer. Jour. Roentgenol., 36(6): 816829.Google Scholar
Pagensteciier, A. 1935: Ein Beitrag zur Erblichkeit der Marmorkrankheit. Röntgenpraxis, 7(1): 1416.Google Scholar
Pearce, L. 1948: Hereditary osteopetrosis of the rabbit. II. X-ray, hematologic and chemical observations. Jour. Exper. Med., 88(6): 597620.Google Scholar
Pearce, L. 1950: Hereditary osteopetrosis of the rabbit. III. Pathologic observations; skeletal abnormalities. Jour. Exper. Med., 92(6): 591600.CrossRefGoogle ScholarPubMed
Pearce, L. 1950: Hereditary osteopetrosis of the rabbit. IV. Pathologic observations; general features. Jour. Exper. Med., 92(6): 601624.CrossRefGoogle ScholarPubMed
Pearce, L. and Brown, W. H. 1948: Hereditary osteopetrosis of the rabbit. I. General features and course of disease; general aspects. Jour. Exper. Med., 88(6): 579596.Google Scholar
Pirie, H. 1930: The development of marble bones. Amer. Jour. Roentgenol., 24(2): 147153.Google Scholar
Schinz, H. R. 1944: Erbtypen und Formen bei MK (Morbus Albers-Schönberg). Der Erbarzt, 12(3/4): 33. Cited in Hanhart (1948).Google Scholar
Stevenson, A. C. 1959: The load of hereditary defects in human populations. Rad. Res., Suppl. 1: 306325.Google Scholar
Theilkäs, E. 1950: Albers-Schönberg'sche Marmorknochenkrankheit mit eigenartiger Veränderung des Brustbeins bei Vater und Sohn. Radiologia Clinica, 19: 16.Google Scholar
Thomson, J. 1949: Osteopetrosis in successive generations. Arch. Dis. Childhood, 24: 143148.Google Scholar
Touraine, A. 1955: L'hérédité en medicine. Masson, Paris.Google Scholar
Welford, N. T. 1959: Facial paralysis associated with osteopetrosis (marble bones). Report of a case of the syndrome occurring in five generations of the same family. Jour. Pediat., 55: 6772.Google Scholar
Winter, G. R. 1945: Amer. J. Orthodont., 31: 637. Cited by Thomson (1949).Google Scholar
Zaleski, A. 1932: Un cas de maladie familiale dite„ des os marmoréens”. Bol. Soc. Radiol. Med., France. 20: 134135.Google Scholar