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BRITTLE BONES AND BLUE SCLERA: HEREDITARY HYPOPLASIA OF THE MESENCHYME

BRITTLE BONES AND BLUE SCLERA: HEREDITARY HYPOPLASIA OF THE MESENCHYME Abstract 1. INTRODUCTION Having had under treatment a typical case of that type of fragilitas ossium which is commonly called "brittle bones and blue sclera," I am in a position to describe for the first time the pathology of the condition, and to add certain clinical observations to those which are included in the rather extensive literature on the subject.The term "fragilitas ossium" is loosely applied to conditions that are characterized by an abnormal fragility of the bones. Bone fragility may be congenital or acquired, and may be due to developmental defects or to local or general absorption of the mineral constituents of normal bone. It is one of the most obscure subjects in modern medicine. The terminology is confused and the pathology is not well understood.Our knowledge is particularly vague in regard to the so-called idiopathic or developmental types of bone fragility. This includes three fairly well defined References 1. Spurway, J.: Hereditary Tendency to Fracture , Brit. M. J. 2:845, 1896.Crossref 2. Looser, E.: Zur Kenntniss der Osteogenesis Imperfecta congenita et tarda , Mitt. a. d. Grenzgeb. d. Med. u. Chir. 15:161, 1906. 3. Sumita, M.: Beitrage zur Lehre von der Chondrodystrophia foetalis und Osteogenesis imperfecta , Deutsche Ztschr. f. Chir. 107:1, 1910.Crossref 4. Bauer, K. H.: Ueber Identität und Wesen der Sogenannten Osteopsathyrosis und Osteogenesis imperfecta , Deutsche Ztschr. f. Chir. 160:289, 1920.Crossref 5. Bronson, E.: Fragilitas Ossium , Edinburgh M. J. 18:240 ( (April) ) 1917. 6. Eddowes, A.: Dark Sclerotics and Fragilitas Ossium , Brit. M. J. 2:222, 1900. 7. Spurway, J.: Fragilitas Ossium, Blue Sclerotics and Otosclerosis , Brit. M. J. 1:826, 1917.Crossref 8. Peters: Blaufärbung des Augapfels , Klin. Monatsbl f. Augenh. 46:130, 1908 9. Blaue Sciera und Knochenbrüschigkeit , Peters Klin. Monatsbl f. Augenh. 51:524, 1913. 10. Van der Hoeve, J., and de Kleijn, A.: Blauwe Sciera , Nederl. Tijdschr. v. Geneesk. 1:1003 ( (March 31) ) 1917 11. Blaue Sclera, Knochenbrüchigkeit und Schwerhörigkeit , Arch. f. Ophth. 95:81, 1918. 12. Voorhoeve, N.: Blue Sclerotics , Lancet 2:740, 1919. 13. Bolten, H.: Blauwe Sclerae , Nederl. Tijdschr. v. Geneesk. 2:1747, 1923. 14. Conard, H. S., and Davenport, C. B.: Hereditary Fragility of Bone , Eugenics Record Office Bull. 14, 1915, Cold Spring Harbor, N. Y. 15. De Kleijn (footnote 9, second reference). 16. Ruttin: Ohrbefund bei Osteopsathyrosis , Monatschr. f. Ohrenh. 54:305, 1919. 17. Stephenson, S.: A Peculiar Appearance of the Eyes , Ophthalmoscope 8:330, 1910. 18. Harman, N. B.: A Pedigree of Five Generations of Blue Sclerotics , Ophthalmoscope 8:559, 1910. 19. Cockayne, E. A.: Hereditary Blue Sclerotics and Brittle Bones , Ophthalmoscope 12:271, 1914. 20. Singer, S.: Ein Beitrage zur Frage der Kombination abnormer Knochenbrüchigkeit und blaue Skleren , Ztschr. f. klin. Med. 97:43 ( (May) ) 1923. 21. Weichmann, E., and Pool, H.: Zur Klinik der sogenannten blauen Skleren , München. med. Wchnschr. 72:213, 1925. 22. Hass, J.: Zur Kenntniss der Osteopsathyrosis idiopathica , Med. Klin. 15:1112, 1919. 23. Blencke, A.: Ueber das gemeinsame Vorkommen , Ztschr. f. orthop. Chir. 45:406, 1924. 24. Holt and Howland: Diseases of Infancy and Childhood , New York, 1922, p. 23. 25. Stenvers, H. W.: Röntgenologische Bemerkungen , Arch. f. Ophth. 95:94, 1918. 26. Stobie, W.: The Association of Blue Sclerotics with Brittle Bones and Progressive Deafness , Quart. J. Med. 17:274 ( (April) ) 1924.Crossref 27. Conlon, F. A.: Five Generations of Blue Sclerotics and Associated Osteoporosis , Boston M. & S. J. 169:16, 1913. 28. Herrman, C.: Blue Sclerotics and Brittle Bones , Am. J. Dis. Child. 9:203 ( (March) ) 1915. 29. Buchanan: A Case of Maldevelopment of the Cornea and Sclerotic , Tr. Ophth. Soc. 23:267, 1903 30. Ophthalmoscope 8:685, 1910. 31. Behr, C.: Beitrage zur Aetiologie des Keratoconus , Klin. Monatsbl. f. Augenh. 51:281, 1913. 32. Ostheimer, M.: Fragilitas Ossium , J. A. M. A. 63:1996, 1914. 33. Hoffmann, W.: Ueber Blaufärbung der Skiera und abnorme Knochenbrüchigkeit , Arch. f. klin. Chir. 107:279, 1915. 34. Gutzeit, R.: Ueber blaue Skiera und Knochenbrüchigkeit , Klin. Monatsbl. f. Augenh. 68:171, 1922. 35. Adair-Dighton, C. A.: Four Generations of Blue Sclerotics , Ophthalmoscope 10:188, 1912. 36. Straat, H. L.: Blauwe Sclerae, Fragilitas Ossium en Otosklerose , Nederl. Tijdschr. v. Geneesk. 1:152 ( (Jan. 13) ) 1923. 37. Freytag: Ueber blaue Skiera u. Knochenbrüchigkeit , Klin. Monatsbl. f. Augenh. 66:507, 1921. 38. Terry, W. I.: Hereditary Osteopsathyrosis , Ann. Surg. 68:231 ( (Aug.) ) 1918. 39. Reye: Ueber diffuse Blaufarbung der Skiera , Deutsche med. Wchnschr. 4:125, 1917. 40. Marconi, A.: Gazz. d. osp. 39:367 ( (May 9) ) 1918 41. abstr., J. A. M. A. 71:319 ( (July 27) ) 1918. 42. Wells, H. G.: Metastatic Calcification , Arch. Int. Med. 15:574 ( (April) ) 1916. 43. Blegvad, O., and Haxthausen, H.: Blue Sclerotics and Brittle Bones, with Macular Atrophy of the Skin and Zonular Cataract , Brit. M. J. 2:1071 ( (Dec. 24) ) 1921. 44. Vander Veer, E. A., and Dickinson, A. M.: Fragilitas Ossium , Ann. Surg. 74:629 ( (Nov.) ) 1921.Crossref 45. Crocco: Blau sklera , Comm. d. Hosp. Ophth. Buenos Aires 2:38, 1920 46. Bolten, G. C.: Het Voorkomen von blauwe Sclerae , Nederl. Tijdschr. v. Geneesk. 1:560 ( (Feb. 23) ) 1918. 47. Glover, D. M.: Osteopsathyrosis , Arch. Surg. 5:464 ( (Nov.) ) 1922.Crossref 48. Davis, G. G.: Osteosclerosis Fragilis Generalisata , Arch. Surg. 5:449 ( (Nov.) ) 1922.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Surgery American Medical Association

BRITTLE BONES AND BLUE SCLERA: HEREDITARY HYPOPLASIA OF THE MESENCHYME

KEY, J. ALBERT
Archives of Surgery , Volume 13 (4) – Oct 1, 1926
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References (31)

Publisher
American Medical Association
Copyright
Copyright © 1926 American Medical Association. All Rights Reserved.
ISSN
0004-0010
eISSN
1538-3644
DOI
10.1001/archsurg.1926.01130100067006
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Abstract

Abstract 1. INTRODUCTION Having had under treatment a typical case of that type of fragilitas ossium which is commonly called "brittle bones and blue sclera," I am in a position to describe for the first time the pathology of the condition, and to add certain clinical observations to those which are included in the rather extensive literature on the subject.The term "fragilitas ossium" is loosely applied to conditions that are characterized by an abnormal fragility of the bones. Bone fragility may be congenital or acquired, and may be due to developmental defects or to local or general absorption of the mineral constituents of normal bone. It is one of the most obscure subjects in modern medicine. The terminology is confused and the pathology is not well understood.Our knowledge is particularly vague in regard to the so-called idiopathic or developmental types of bone fragility. This includes three fairly well defined References 1. Spurway, J.: Hereditary Tendency to Fracture , Brit. M. J. 2:845, 1896.Crossref 2. Looser, E.: Zur Kenntniss der Osteogenesis Imperfecta congenita et tarda , Mitt. a. d. Grenzgeb. d. Med. u. Chir. 15:161, 1906. 3. Sumita, M.: Beitrage zur Lehre von der Chondrodystrophia foetalis und Osteogenesis imperfecta , Deutsche Ztschr. f. Chir. 107:1, 1910.Crossref 4. Bauer, K. H.: Ueber Identität und Wesen der Sogenannten Osteopsathyrosis und Osteogenesis imperfecta , Deutsche Ztschr. f. Chir. 160:289, 1920.Crossref 5. Bronson, E.: Fragilitas Ossium , Edinburgh M. J. 18:240 ( (April) ) 1917. 6. Eddowes, A.: Dark Sclerotics and Fragilitas Ossium , Brit. M. J. 2:222, 1900. 7. Spurway, J.: Fragilitas Ossium, Blue Sclerotics and Otosclerosis , Brit. M. J. 1:826, 1917.Crossref 8. Peters: Blaufärbung des Augapfels , Klin. Monatsbl f. Augenh. 46:130, 1908 9. Blaue Sciera und Knochenbrüschigkeit , Peters Klin. Monatsbl f. Augenh. 51:524, 1913. 10. Van der Hoeve, J., and de Kleijn, A.: Blauwe Sciera , Nederl. Tijdschr. v. Geneesk. 1:1003 ( (March 31) ) 1917 11. Blaue Sclera, Knochenbrüchigkeit und Schwerhörigkeit , Arch. f. Ophth. 95:81, 1918. 12. Voorhoeve, N.: Blue Sclerotics , Lancet 2:740, 1919. 13. Bolten, H.: Blauwe Sclerae , Nederl. Tijdschr. v. Geneesk. 2:1747, 1923. 14. Conard, H. S., and Davenport, C. B.: Hereditary Fragility of Bone , Eugenics Record Office Bull. 14, 1915, Cold Spring Harbor, N. Y. 15. De Kleijn (footnote 9, second reference). 16. Ruttin: Ohrbefund bei Osteopsathyrosis , Monatschr. f. Ohrenh. 54:305, 1919. 17. Stephenson, S.: A Peculiar Appearance of the Eyes , Ophthalmoscope 8:330, 1910. 18. Harman, N. B.: A Pedigree of Five Generations of Blue Sclerotics , Ophthalmoscope 8:559, 1910. 19. Cockayne, E. A.: Hereditary Blue Sclerotics and Brittle Bones , Ophthalmoscope 12:271, 1914. 20. Singer, S.: Ein Beitrage zur Frage der Kombination abnormer Knochenbrüchigkeit und blaue Skleren , Ztschr. f. klin. Med. 97:43 ( (May) ) 1923. 21. Weichmann, E., and Pool, H.: Zur Klinik der sogenannten blauen Skleren , München. med. Wchnschr. 72:213, 1925. 22. Hass, J.: Zur Kenntniss der Osteopsathyrosis idiopathica , Med. Klin. 15:1112, 1919. 23. Blencke, A.: Ueber das gemeinsame Vorkommen , Ztschr. f. orthop. Chir. 45:406, 1924. 24. Holt and Howland: Diseases of Infancy and Childhood , New York, 1922, p. 23. 25. Stenvers, H. W.: Röntgenologische Bemerkungen , Arch. f. Ophth. 95:94, 1918. 26. Stobie, W.: The Association of Blue Sclerotics with Brittle Bones and Progressive Deafness , Quart. J. Med. 17:274 ( (April) ) 1924.Crossref 27. Conlon, F. A.: Five Generations of Blue Sclerotics and Associated Osteoporosis , Boston M. & S. J. 169:16, 1913. 28. Herrman, C.: Blue Sclerotics and Brittle Bones , Am. J. Dis. Child. 9:203 ( (March) ) 1915. 29. Buchanan: A Case of Maldevelopment of the Cornea and Sclerotic , Tr. Ophth. Soc. 23:267, 1903 30. Ophthalmoscope 8:685, 1910. 31. Behr, C.: Beitrage zur Aetiologie des Keratoconus , Klin. Monatsbl. f. Augenh. 51:281, 1913. 32. Ostheimer, M.: Fragilitas Ossium , J. A. M. A. 63:1996, 1914. 33. Hoffmann, W.: Ueber Blaufärbung der Skiera und abnorme Knochenbrüchigkeit , Arch. f. klin. Chir. 107:279, 1915. 34. Gutzeit, R.: Ueber blaue Skiera und Knochenbrüchigkeit , Klin. Monatsbl. f. Augenh. 68:171, 1922. 35. Adair-Dighton, C. A.: Four Generations of Blue Sclerotics , Ophthalmoscope 10:188, 1912. 36. Straat, H. L.: Blauwe Sclerae, Fragilitas Ossium en Otosklerose , Nederl. Tijdschr. v. Geneesk. 1:152 ( (Jan. 13) ) 1923. 37. Freytag: Ueber blaue Skiera u. Knochenbrüchigkeit , Klin. Monatsbl. f. Augenh. 66:507, 1921. 38. Terry, W. I.: Hereditary Osteopsathyrosis , Ann. Surg. 68:231 ( (Aug.) ) 1918. 39. Reye: Ueber diffuse Blaufarbung der Skiera , Deutsche med. Wchnschr. 4:125, 1917. 40. Marconi, A.: Gazz. d. osp. 39:367 ( (May 9) ) 1918 41. abstr., J. A. M. A. 71:319 ( (July 27) ) 1918. 42. Wells, H. G.: Metastatic Calcification , Arch. Int. Med. 15:574 ( (April) ) 1916. 43. Blegvad, O., and Haxthausen, H.: Blue Sclerotics and Brittle Bones, with Macular Atrophy of the Skin and Zonular Cataract , Brit. M. J. 2:1071 ( (Dec. 24) ) 1921. 44. Vander Veer, E. A., and Dickinson, A. M.: Fragilitas Ossium , Ann. Surg. 74:629 ( (Nov.) ) 1921.Crossref 45. Crocco: Blau sklera , Comm. d. Hosp. Ophth. Buenos Aires 2:38, 1920 46. Bolten, G. C.: Het Voorkomen von blauwe Sclerae , Nederl. Tijdschr. v. Geneesk. 1:560 ( (Feb. 23) ) 1918. 47. Glover, D. M.: Osteopsathyrosis , Arch. Surg. 5:464 ( (Nov.) ) 1922.Crossref 48. Davis, G. G.: Osteosclerosis Fragilis Generalisata , Arch. Surg. 5:449 ( (Nov.) ) 1922.Crossref

Journal

Archives of Surgery – American Medical Association

Published: Oct 1, 1926

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