History and Nomenclature

  • Peter Beighton
  • Bryan J. Cremin


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.


Bone Dysplasia Dynamic Classification Bone Overgrowth Intrinsic Disease Metaphyseal Dysplasia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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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

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