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J Med Genet. 1979 April; 16(2): 101–116.
PMCID: PMC1012733

Genetic heterogeneity in osteogenesis imperfecta.


An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group of patients showed autosomal dominant inheritance of osteoporosis leading to fractures and distinctly blue sclerae. A large proportion of adults had presenile deafness or a family history of presenile conductive hearing loss. A second group, who comprised the majority of newborns with neonatal fractures, all died before or soon after birth. These had characteristic broad, crumpled femora and beaded ribs in skeletal x-rays. Autosomal recessive inheritance was likely for some, if not all, of these cases. A third group, two thirds of whom had fractures at birth, showed severe progressive deformity of limbs and spine. The density of scleral blueness appeared less than that seen in the first group of patients and approximated that seen in normal children and adults. Moreover, the blueness appeared to decrease with age. All patients in this group were sporadic cases. The mode of inheritance was not resolved by the study, but it is likely that the group is heterogeneous with both dominant and recessive genotypes responsible for the syndrome. The fourth group of patients showed dominant inheritance of osteoporosis leading to fractures, with variable deformity of long bones, but normal sclerae.

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Selected References

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  • Bauze RJ, Smith R, Francis MJ. A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients. J Bone Joint Surg Br. 1975 Feb;57(1):2–12. [PubMed]
  • Blount WP. Early recognition and prompt evaluation of spinal deformity. Wis Med J. 1969 Aug;68(8):245–249. [PubMed]
  • Blümcke S, Niedorf HR, Thiel HJ, Langness U. Histochemical and fine structural studies on the cornea with osteogenesis imperfecta congenita. Virchows Arch B Cell Pathol. 1972;11(2):124–132. [PubMed]
  • CANIGGIA A, STUART C, GUIDERI R. Fragilitas ossium hereditaria tarda: Ekman-Lobstein disease. Acta Med Scand Suppl. 1958;340:1–172. [PubMed]
  • CHAWLA S. INTRAUTERINE OSTEOGENESIS IMPERFECTA IN FOUR SIBLINGS. Br Med J. 1964 Jan 11;1(5375):99–101. [PMC free article] [PubMed]
  • Falvo KA, Root L, Bullough PG. Osteogenesis imperfecta: clinical evaluation and management. J Bone Joint Surg Am. 1974 Jun;56(4):783–793. [PubMed]
  • FOLLIS RH., Jr Osteogenesis imperfecta congenita: a connective tissue diathesis. J Pediatr. 1952 Dec;41(6):713–719. [PubMed]
  • FOLLIS RH., Jr Maldevelopment of the corium in the osteogenesis imperfecta syndrome. Bull Johns Hopkins Hosp. 1953 Oct;93(4):225–233. [PubMed]
  • Francis MJ, Bauze RJ, Smith R. Osteogenesis imperfecta: a new classification. Birth Defects Orig Artic Ser. 1975;11(6):99–102. [PubMed]
  • Francis MJ, Smith R. Polymeric collagen of skin in osteogenesis imperfecta, homocystinuria and Ehlers-Danlos and Marfan syndromes. Birth Defects Orig Artic Ser. 1975;11(6):15–21. [PubMed]
  • Francis MJ, Smith R, Macmillan DC. Polymeric collagen of skin in normal sunjects and in patients with inherited connective tissue disorders. Clin Sci. 1973 May;44(5):429–438. [PubMed]
  • FREDA VJ, VOSBURGH GJ, DI LIBERTI C. Osteogenesis imperfecta congenita. A presentation of 16 cases and review of the literature. Obstet Gynecol. 1961 Nov;18:535–547. [PubMed]
  • GOLDFARB AA, FORD D. Osteogenesis imperfecta congenita in consecutive siblings. J Pediatr. 1954 Mar;44(3):264–268. [PubMed]
  • Haebara H, Yamasaki Y, Kyogoku M. An autopsy case of osteogenesis imperfecta congenita--histochemical and electron microscopical studies. Acta Pathol Jpn. 1969 Aug;19(3):377–394. [PubMed]
  • Heller RH, Winn KJ, Heller RM. The prenatal diagnosis of osteogenesis imperfecta congenita. Am J Obstet Gynecol. 1975 Feb 15;121(4):572–573. [PubMed]
  • Horan F, Beighton P. Autosomal recessive inheritance of osteogenesis imperfecta. Clin Genet. 1975 Aug;8(2):107–111. [PubMed]
  • Ibsen KH. Distinct varieties of osteogenesis imperfecta. Clin Orthop Relat Res. 1967 Jan-Feb;50:279–290. [PubMed]
  • KAPLAN M, BALDINO C. Dysplasie périostale paraissant familiale et transmise suivant le mode mendelien recessif. Arch Fr Pediatr. 1953;10(9):943–950. [PubMed]
  • KOMAI T, KUNII H, OZAKI Y. A note on the genetics of Van der Hoeve's syndrome, with special reference to a large Japanese kindred. Am J Hum Genet. 1956 Jun;8(2):110–119. [PubMed]
  • Levin LS, Salinas CF, Jorgenson RJ. Classification of osteogenesis imperfecta by dental characteristics. Lancet. 1978 Feb 11;1(8059):332–333. [PubMed]
  • Levin LS, Thompson RG. Osteogenesis imperfecta tarda presenting with short stature. Birth Defects Orig Artic Ser. 1975;11(6):103–105. [PubMed]
  • LIEVRE JA. [Constitutional osseous fragility. (Study of 25 families including 53 patinets)]. Rev Rhum Mal Osteoartic. 1959 Aug;26:420–432. [PubMed]
  • Omenn GS, Hall JG, Graham CB, Karp LE. The use of radiographic visualization for prenatal diagnosis. Birth Defects Orig Artic Ser. 1977;13(3D):217–229. [PubMed]
  • Penttinen RP, Lichtenstein JR, Martin GR, McKusick VA. Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1975 Feb;72(2):586–589. [PubMed]
  • Remigio PA, Grinvalsky HT. Osteogenesis imperfecta congenita. Association with conspicuous extraskeletal connective tissue dysplasia. Am J Dis Child. 1970 Jun;119(6):524–528. [PubMed]
  • ROHWEDDER HJ. Ein Beitrag zur Frage des Erbganges der Osteogenesis imperfecta Vrolik. Arch Kinderheilkd. 1953;147(3):256–262. [PubMed]
  • Suen VF, Harris V, Berman JL. Osteogenesis imperfecta congenita. Report of a mother and son. Clin Genet. 1974;5(4):307–311. [PubMed]
  • Tanner JM, Whitehouse RH, Takaishi M. Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. II. Arch Dis Child. 1966 Dec;41(220):613–635. [PMC free article] [PubMed]
  • Wilson MG. Congenital osteogenesis imperfecta. Birth Defects Orig Artic Ser. 1974;10(12):296–298. [PubMed]
  • ZEITOUN MM, IBRAHIM AH, KASSEM AS. Osteogenesis imperfecta congenita in dizygotic twins. Arch Dis Child. 1963 Jun;38:289–291. [PMC free article] [PubMed]

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