History and Nomenclature

  • Peter Beighton
  • Bryan J. Cremin

Abstract

The recent history of the sclerosing bone dysplasias began in Germany when Albers-Schönberg (1904) published ‘roentgenograms of a rare bone disease’ concerning a young man with increased density of the skeleton. Sporadic reports followed and the term ‘osteopetrosis’ or ‘stony bones’ came into general use. During the next quarter of a century, osteopoikilosis (Ledoux-Lebard et al. 1916), melorheostosis (LéRi and Joanni 1922), osteopathia striata (Voorhoeve 1924; Fairbank 1925), and diaphyseal dysplasia (Camurati 1922; Engelmann 1929) were all delineated. Many patients with ‘atypical’ osteopetrosis were reported and it later became apparent that this designation encompassed numerous distinct disease entities. In the same period, facial distortion by bone overgrowth was often labelled ‘leontiasis ossea.’ Retrospectively, firm diagnoses of specific sclerosing bone dysplasias can be made in a number of individuals who had previously been grouped in these general categories.

Keywords

Osteopetrosis Hyperostosis Syndactyly Melorheostosis Pycnodysostosis 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Albers-Schönberg H (1904) Röntgenbilder einer seltenen Knochenerkrankung. Münch Med Wochensch 51: 365Google Scholar
  2. Bakwin H, Eiger MS (1956) Fragile bones and macrocranium. J Pediatr 49: 558PubMedCrossRefGoogle Scholar
  3. Camurati M (1922) Di un raro caso di osteite simmetrica creditatia degli arti inferior. Chir Organi 6: 662Google Scholar
  4. Engelmann G (1929) Ein Fall von Osteopathia Hyperostica (sclerotisans) Multiplex Infantalis. Fortschr Roentgenstr 39: 1101Google Scholar
  5. Fairbank HAT (1925) A case of unilateral affection of the skeleton of unknown origin. Br J Snrg 12: 594CrossRefGoogle Scholar
  6. Fairbank HAT (1951) An atlas of general affection of the skeleton. Livingstone, Edinburgh, p 32Google Scholar
  7. Gorlin RJ, Cohen MM (1969) Frontometaphyseal dysplasia. Am J Dis Child 118: 487PubMedGoogle Scholar
  8. Gorlin RJ, Spranger J, Koszalka MF (1969) Genetic craniotubular bone dysplasias and hyperostoses. A critical analysis. Birth Defects V (4): 79Google Scholar
  9. Gorlin RJ, Koszalka MF, Spranger J (1970) Pyle’s disease ( Familial Metaphyseal Dysplasia ). J Bone Joint Surg [Am] 52: 347Google Scholar
  10. Jackson WPU, Albright F, Drewry G, Hanelin J, Rubin MI (1954) Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia and related conditions. Arch Intern Med 94: 871CrossRefGoogle Scholar
  11. Joseph R, Lefebvre J, Guy E, Job JC (1958) Dysplasia cranio-diaphysaire progressive. Ses relations avec la dysplasia diaphysaire progressive Camurati-Engelmann. Ann Radio (Paris) 1: 477Google Scholar
  12. Kaufmann HJ (ed) (1973) Intrinsic diseases of bones. Karger, Basel (Progress in pediatric radiology, vol 4 )Google Scholar
  13. Ledoux-Lebard R, Chabanix, Desanne (1916) L’osteopoecilie, form nouvelle d’osteite condensante generalisée. J Radiol Electrol Med Nucl 2: 133Google Scholar
  14. léri A, Joanni J (1922) Une affection non décrite des os: hyperostose ‘en coulée’ sur toute la langueur d’un membre où mélorhéostose. Bull Soc Méd Hôp Paris 46: 1141Google Scholar
  15. Maroteaux P (1970) Nomenclature internationale des maladies osseuses constitutionelles. Ann Radiol (Paris) 13: 455Google Scholar
  16. Maroteaux P, Lamy M (1962) La pycnodysostose. Presse Méd 70: 999PubMedGoogle Scholar
  17. Melnick JC, Needles CF (1966) An undiagnosed bone dysplasia: A 2 family study of 4 generations and 3 generations. A J R 97: 39Google Scholar
  18. Rubin P (1964) Dynamic classification of bone dysplasias. Year Book Medical Publishers, Chicago, p 258Google Scholar
  19. Spranger J, Albrecht C, Rohwedder H-J, Wiedemann H-R (1968) Die Dysosteosklerose: eine Sonderform der generalisierten Osteosklerose. Fortschr Roentgenstr 109: 504PubMedCrossRefGoogle Scholar
  20. Spranger J, Langer LO, Wiedemann HR (1974) Bone dysplasias. An atlas of constitutional disorders of skeletal development. Saunders, PhiladelphiaGoogle Scholar
  21. Truswell AS (1958) Osteopetrosis with syndactyly. A morphological variant of Albers-Schönberg disease. J Bone Joint Surg [Br] 40: 208Google Scholar
  22. Voorhoeve N (1924) L’image radiologique non encore décrite d’une anomalie du squelette. Acta Radiol (Stockh) 3: 407CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1980

Authors and Affiliations

  • Peter Beighton
    • 1
  • Bryan J. Cremin
    • 2
  1. 1.Department of Human Genetics, Medical School and Groote Schuur HospitalUniversity of Cape TownSouth Africa
  2. 2.Department of Radiology, Groote Schuur and Red Cross Children’s HospitalUniversity of Cape TownSouth Africa

Personalised recommendations