Genetic heterogeneity in osteogenesis imperfecta.

Journal of Medical Genetics - Tập 16 Số 2 - Trang 101-116 - 1979
David Sillence1, A Senn1, D. M. Danks1
1From the Department ofPaediatrics and Genetics, University of Melbourne; and the Genetics Research Unit, Royal Children's Hospital, Victoria, Australia

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Adaita, M. D. (1957). Osteogenesis imperfecta-a case report. Journal of the Indian Medical Profession, 4, 18101812.

Awwaad, S., and Reda, M. (1960). Osteogenesis imperfecta; a review of literature and report on three cases. Archives of Pediatrics, 77, 280-290.

Axmann, E. (1831). Merkwurdige Fragilitat der Knochen ohne dyskrasiche ursache als Krankhafte Eigenthumlickkeit dreier Geschwister. Annalen Geschicte Heilkunde, 4, 58-68, (quoted from McKusick, V. A., 1972).

Bauze, R. J., Smith, R., and Francis, M. J. 0. (1975). A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients. Journal of Bone and Joint Surgery, 57B, 2-12.

Bell, J. (1928). Blue sclerotics and fragility of bone. In Treasury of Human Inheritance, Vol. 2, part 3. Cambridge University Press, Cambridge and London.

Bixler, D. (1976). Heritable disorders affecting dentin. In Oral-Facial Genetics. Ed. by R. E. Stewart and G. H. Prescott. Mosby, St. Louis.

Blount, W. P. (1969). Early recognition and evaluation of spinal deformity. Wisconsin Medical Journal, 68, 245-249.

Bluemcke, S., Niedorf, H. R., Thiel, H. J., and Langness, U. (1972). Histochemical and fine structural studies on the cornea in osteogenesis imperfecta. Virchows Archiv fur Pathologische Anatomie und Physiologie und fur Klinische Medizin, 11, 124-132.

Buchanan, L. (1903). Case of congenital maldevelopment of the cornea and sclerae. Transactions of the Ophthalmological Society of the United Kingdom, 23, 267-269.

Caniggia, A., Stuart, C., and Guideri, R. (1958). Fragilitas ossium hereditaria tarda. Acta Medica Scandinavica, 162, Suppl. 340, 1-172.

Casanovas, J. (1934). Blue scleras and fragilitas osseum. Archivos de Oftalmologia Hispano-Americanos, 34, 133. (American Journal of Diseases of Children, 50, 1298-1299 (Abst.), 1935.) Chawla, S. (1964). Intrauterine osteogenesis imperfecta in four siblings. British Medical Journal, 5375, 99-101.

Cocchi, U. (1964). Osteogenesis imperfecta. In Humangenetik, Vol.2, pp. 151-159. Ed. by P. E. Becker. Thieme, Stuttgart.

Danks, D. M. (1975). Generalized dysplasias of bone: some practical considerations. In Progress in Pediatric Surgery, Vol. 8, pp. 135-165. Urban and Schwarzenberg, Munchen.

Danks, D. M., Allan, J., and Anderson, C. M. (1965). A genetic study of fibrocystic diseases of the pancreas.

Eddowes, A. (1900). Dark sclerotics and fragilitas ossium.

British Medical Journal, 2, 222.

Eichholtz, W. (1971). Osteogenesis imperfecta. Electronmicroscopische Befunde an Sklera und Cornea. Bericht uber die 71. Zusammenkunft der Deutschen Ophthalmologie. Gesellschaft in Heidelberg, 1971, 116-120.

Eichholtz, W., and Mueller, D. (1972). Electron microscopy findings on the cornea and sclera in osteogenesis imperfecta. Klinische Mondtsblatter fur Augenheilkunde, 161, 646-653.

Ekman, 0. J. (1788). Descriptionem et casus aliquot osteomalacia sistens. Dissertatio Medica, Uppsala. Quoted from Seedorf, K. S. (1949).

Emery, A. E. H. (1976). Methodology in Human Genetics.

Fairbank, T. (1951). An Atlas of General Affections of the

Falvo, K. A., Root, L., and Bullough, P. G. (1974). Osteogenesis imperfecta: clinical evaluation and management. Journal of Bone and Joint Surgery, 56A, 783-793.

Follis, R. H., Jr. (1952). Osteogenesis imperfecta congenita; a connective tissue diathesis. Journal of Pediatrics, 41, 713-721.

Follis, R. J., Jr. (1953). Development of the corium in the osteogenesis imperfecta syndrome. Bulletin of the Johns Hopkins Hospital, 93, 225-233.

Francis, M. J. O., Bauze, R. J., and Smith, R. (1975). Osteogenesis imperfecta: a new classification. Birth Defects: Original Article Series, 11 (6), 99-102. The National Foundation-March of Dimes, New York. Francis, M. J. O., and Smith, R. (1975). Polymeric collagen of skin in osteogenesis imperfecta, homocystinuria and Ehlers-Danlos and Marfan syndromes. Birth DefectsOriginal Article Series, 11(6), 15-21. The National Foundation-March of Dimes, New York.

Francis, M. J. O., Smith, R., and MacMillan, D. C. (1973). Polymeric collagen of skin in normal subjects and in patients with inherited connective tissue disorders. Clinical Science, 44, 429-438.

Freda, V. J., Vosburgh, G. J., and Di Liberti, C. (1961). Osteogenesis imperfecta congenita. A presentation of sixteen cases and review of the literature. Obstetrics and Gynecology, 18, 535-547.

Goldfarb, A. A., and Ford, D. (1954). Osteogenesis imperfecta in consecutive siblings. Journal of Pediatrics, 44, 264-268.

Haebara, H., Yamasaki, Y., and Kyogoko, M. (1969). An autopsy case of osteogenesis imperfecta. Acta Pathologica Japonica, 19, 377-394.

Hein, B. J. (1928). Osteogenesis imperfecta with multiple fractures at birth: an investigation with special reference to heredity and blue sclera. Journal of Bone and Joint Surgery, 10, 243-247.

Heller, R. H., Winn, K. J., and Heller, R. M. (1975). The prenatal diagnosis of osteogenesis imperfecta congenita.

American Journal of Obstetrics and Gynecology, 121, 572-573.

Holcomb, D. Y. (1931). A fragile-boned family. Hereditary fragilitas ossium. Journal of Heredity, 22, 105-115.

Horan, F., and Beighton, P. (1975). Autosomal recessive inheritance of osteogenesis imperfecta. Clinical Genetics, 8, 107-111.

Ibsen, K. H. (1967). Distinct varieties of osteogenesis imperfecta. Clinical Orthopaedics and Related Research, 50, 279-290.

Kaplan, M., and Baldino, C. (1953). Dysplasia pEriostale paraissant familiale et transmise suivant le mode mendelien recessif. Archives Fran.Vaises de Pediatrie, 10, 943-950.

King, J. D., and Bobechko, W. P. (1971). Osteogenesis imperfecta. An orthopedic description and surgical review. Journal of Bone and Joint Surgery, 53B, 72-89.

Kitchen, W. H. (1968a). The relationship between birthweight and gestational age in an Australian hospital population. Australian Pediatric Journal, 4, 29-37.

Kitchen, W. H. (1968b). Head circumference, length and placental weight of infants in an Australian hospital population. Australian Pediatric Journal, 4, 105-112.

Komai, T., Kunii, H., and Ozaki, Y. (1956). A note on the genetics of Van der Hoeve's syndrome, with special reference to a large Japanese kindred. American Journal of Human Genetics, 8, 110-119.

Levin, L. S., Salinas, C. F., and Jorgensen, R. J. (1978). Classification of osteogenesis imperfecta by dental characteristics. Lancet, 1, 332-333.

Levin, L. S., and Thompson, R. G. (1975). Osteogenesis imperfecta tarda presenting with short stature. Birth Defects-Original Article Series, 9 (6), 103-105. The National Foundation-March of Dimes, New York.

Lievre, J. A. (1959). La fragilit6 osseuse constitutionelle. Ittude de 25 familles comportant 53 malades. Revue de Rhumatisme et des Maladies Osteo-Articulaires, 26,420-432.

Lobstein, J. G. C. F. M. (1835). Lehrbuch der Pathologischen Anatomie, Bd. 2, p. 179. Stuttgart. (Quoted from Seedorf, K. S., 1949).

Looser, E. (1906). Zur Kenntnis der osteogenesis imperfecta congenita und tarda. Mittelungen aus der Grenzgebieten Medizin und Chirugie, 15, 161-207.

McKusick, V. A. (1972). Heritable Disorders of Connective Tissues. Mosby, St. Louis.

McKusick, V. A. (1975). The classification of heritable disorders of connective tissue. Birth Defects-Original Article Series, 11, (6), 1-9. The National FoundationMarch of Dimes, New York.

Maloney, F. P. (1969). Osteogenesis imperfecta of early onset in three members of an inbred group; recessive inheritance. In Skeletal Dysplasias. Clinical Delineation of Birth Defects, Vol. IV, pp. 219-224. The National FoundationMarch of Dimes, New York.

Nie, N. H., Hull, C. H., Jenkins, J. A., Steinbrenner, K., and Bent, D. H. (1975). Statistical Package for the Social Sciences. McGraw-Hill, New York.

Omenn, G. S., Hall, J. G., Graham, B., and Karp, L. E. (1977). The use of radiographic visualization for prenatal diagnosis. Birth Defects-Original Article Series, 12 (3D), 217-229. The National Foundation-March of Dimes, New York. Penttinen, R. P., Lichtenstein, J. R., Martin, G. R., and McKusick, V. A. (1975). Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proceedings of the NationalAcademy ofSciences ofthe U.S.A., 72,586-589.

Remigio, P. A., and Grinvalsky, H. T. (1970). Osteogenesis imperfecta congenita. American Journal of Diseases of Children, 119, 524-528.

Rohwedder, von H. J. (1953). Ein Beitrag zur Frage des Erbganges der Osteogenesis Imperfecta Vrolik. Archiv fur Kinderheilkunde, 147, 256-262.

Schroder, G. (1964). Osteogenesis imperfecta. Eine klinischeerbbiologische Untersuchung des Krankengutes in Westfalen. Schatzung der Mutationsraten fur den Regierungsbezirk MUnster (Westfalen). Zeitschrift fur Menschliche Vererbungs und Konstitutionslehre, 37, 632-676.

Seedorf, K. S. (1949). Osteogenesis Imperfecta: A Study of Clinical Features and Heredity Based on 55 Danish Families C.omprising 180 Affected Members. Universitetsforlaget I Arhus, Copenhagen.

Smars, G. (1961). Osteogenesis Imperfecta in Sweden. Scandinavian University Books, Stockholm.

Solomons, C. C., and Armstrong, D. A. (1976). Prenatal testing for osteogenesis imperfecta. Proceedings of the 22nd Orthopedic Research Society, Abst.

Spurway, J. (1896). Hereditary tendency to fracture. British Medical Journal, 2, 844. Suen, V. F., Hams, V., and Berman, J. L. (1974). Osteogenesis imperfecta congenita. Report of a mother and son. Clinical Genetics, 5, 307-311.

Tanner, J. M., Whitehouse, R. H., and Takaishi, M. (1966). Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. Archives of Disease in Childhood, 41, 454-471, 613-635.

Tsuruta, T., and Sugiura, Y. (1977). Lethal short-limbed dwarfism in Japan. Proceedings of the Fifth International Conference of Birth Defects. Excerpta Medica (Congress Series), 426, 118 (Abst.). Van de Hoeve, J., and de Kleyn, A. (1918). Blaue Sclerae Knochenbruichigkeit und Schwerhorigkeit. Archiv fiir Ophthalmologie, 95, 81-93.

Williams, P. F. (1965). Fragmentation and rodding in osteogenesis imperfecta. Journal of Bone and Joint Surgery, 47B, 23-31.

Wilson, M. G. (1974). Congenital osteogenesis imperfecta. Birth Defects-Original Article Series, 10 (12), 296-298. The National Foundation-March of Dimes, New York. Winkler, N. F. (1871). Ein Fall von foetaler Rachitis mit

Zeitoun, M. M., Ibrahim, A. H., and Kassem, A. S. (1963).