Hostname: page-component-78c5997874-v9fdk Total loading time: 0 Render date: 2024-11-05T21:40:20.704Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Published online by Cambridge University Press:  01 August 2014

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

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 10 , Issue 3 , July 1961 , pp. 353 - 358
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): 377–394.Google Scholar
Cocchi, U. 1950: Sippentafel bei Marmorknochenerkrankung mit dominantem polyphänem Erbgang. Fortschr. Röntgenstr., 73(1): 77–85.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): 444–446.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): 113–125.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): 121–130.Google Scholar
Hesseling, W. 1948/1949: Zur Klinik und Erbbiologie der Marmorknochenkrankheit. Monatschr. für Kinderheilk., 96(5): 195–201.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): 405–419.Google Scholar
Klein, A. 1952: Zur Frage der Erblichkeit der Marmorknochenkrankheit. Fortschr. Röntgenstr., 76(3): 366–371.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): 816–829.Google Scholar
Pagensteciier, A. 1935: Ein Beitrag zur Erblichkeit der Marmorkrankheit. Röntgenpraxis, 7(1): 14–16.Google Scholar
Pearce, L. 1948: Hereditary osteopetrosis of the rabbit. II. X-ray, hematologic and chemical observations. Jour. Exper. Med., 88(6): 597–620.Google Scholar
Pearce, L. 1950: Hereditary osteopetrosis of the rabbit. III. Pathologic observations; skeletal abnormalities. Jour. Exper. Med., 92(6): 591–600.CrossRefGoogle ScholarPubMed
Pearce, L. 1950: Hereditary osteopetrosis of the rabbit. IV. Pathologic observations; general features. Jour. Exper. Med., 92(6): 601–624.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): 579–596.Google Scholar
Pirie, H. 1930: The development of marble bones. Amer. Jour. Roentgenol., 24(2): 147–153.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: 306–325.Google Scholar
Theilkäs, E. 1950: Albers-Schönberg'sche Marmorknochenkrankheit mit eigenartiger Veränderung des Brustbeins bei Vater und Sohn. Radiologia Clinica, 19: 1–6.Google Scholar
Thomson, J. 1949: Osteopetrosis in successive generations. Arch. Dis. Childhood, 24: 143–148.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: 67–72.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: 134–135.Google Scholar