Skip to main content
NCBI home page
Postgraduate Medical Journal logoLink to Postgraduate Medical Journal
. 1977 Aug;53(622):507–516. doi: 10.1136/pgmj.53.622.507

A review of the osteopetroses.

P Beighton, F Horan, H Hamersma
PMCID: PMC2496745  PMID: 335376

Abstract

The osteopetroses are a group of conditions which are characterized by varying combinations of bony sclerosis and modelling defects. Classical osteopetrosis may be inherited as an autosomal dominant or autosomal recessive: the former variety is benign, heterogeneous and comparatively common, while the latter is precocious, potentially lethal and rare. Many other craniotubular dysplasias and hyperostoses are loosely grouped with the osteopetroses. The commonest of these is the autosomal dominant form of craniometaphyseal dysplasia, while the others which are well known include Pyle disease, and van Buchem disease. Sclerosteosis is a progressive condition in which massive cranial thickening is associated with syndactyly and gigantism. Each of these disorders has specific clinical and radiographic features, which permit recognition. Diagnostic accuracy is crucial for treatment, prognostication and effective genetic management.

Full text

PDF
507

Images in this article

508Fig. 1
on p.508
509Fig. 2
on p.509
509Fig. 3
on p.509
510Fig. 4
on p.510
511Fig. 5
on p.511
511Fig. 6
on p.511
512Fig. 7
on p.512
513Fig. 8
on p.513
513Fig. 9
on p.513

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ARAJ J. S., ERHARD G. A., PIATT A. D. Benign osteopetrosis; report of 9 cases. Am J Roentgenol Radium Ther Nucl Med. 1956 Dec;76(6):1119–1131. [PubMed] [Google Scholar]
  2. Beighton P., Cremin B. J., Hamersma H. The radiology of sclerosteosis. Br J Radiol. 1976 Nov;49(587):934–939. doi: 10.1259/0007-1285-49-587-934. [DOI] [PubMed] [Google Scholar]
  3. Beighton P., Durr L., Hamersma H. The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals. Ann Intern Med. 1976 Apr;84(4):393–397. doi: 10.7326/0003-4819-84-4-393. [DOI] [PubMed] [Google Scholar]
  4. ENELL H., PEHRSON M. Studies on osteopetrosis. 1. Clinical report of three cases with genetic considerations. Acta Paediatr. 1958 May;47(3):279–287. doi: 10.1111/j.1651-2227.1958.tb07884.x. [DOI] [PubMed] [Google Scholar]
  5. Elmore S. M., Nance W. E., McGee B. J., Engel-de Montmollin M., Engel E. Pycnodysostosis, with a familial chromosome anomaly. Am J Med. 1966 Feb;40(2):273–282. doi: 10.1016/0002-9343(66)90108-2. [DOI] [PubMed] [Google Scholar]
  6. Fairbank H. A. Generalized Diseases of the Skeleton: (Clinical Section). Proc R Soc Med. 1935 Oct;28(12):1611–1619. doi: 10.1177/003591573502801247. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Gladney J. H., Monteleone P. L. Familial metaphyseal dysplasia. Lancet. 1970 Jul 4;2(7662):44–45. doi: 10.1016/s0140-6736(70)92508-0. [DOI] [PubMed] [Google Scholar]
  8. Johnston C. C., Jr, Lavy N., Lord T., Vellios F., Merritt A. D., Deiss W. P., Jr Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine (Baltimore) 1968 Mar;47(2):149–167. [PubMed] [Google Scholar]
  9. Jones M. D., Mulcahy N. D. Osteopathia striata, osteopetrosis, and impaired hearing. A case report. Arch Otolaryngol. 1968 Feb;87(2):116–118. doi: 10.1001/archotol.1968.00760060118004. [DOI] [PubMed] [Google Scholar]
  10. Kajii T., Homma T., Ohsawa T. Pycnodysostosis. J Pediatr. 1966 Jul;69(1):131–133. doi: 10.1016/s0022-3476(66)80371-2. [DOI] [PubMed] [Google Scholar]
  11. Lejeune E., Anjou A., Bouvier M., Robert J., Vauzelle J. L., Jeanneret J. Dysplasie cranio-métaphysaire familiale. Rev Rhum Mal Osteoartic. 1966 Dec;33(12):714–726. [PubMed] [Google Scholar]
  12. MAROTEAUX P., LAMY M. THE MALADY OF TOULOUSE-LAUTREC. JAMA. 1965 Mar 1;191:715–717. doi: 10.1001/jama.1965.03080090029007. [DOI] [PubMed] [Google Scholar]
  13. MAROTEAUX P., LAMY M. [Pyknodysostosis]. Presse Med. 1962 Apr 25;70:999–1002. [PubMed] [Google Scholar]
  14. Maroteaux P., Fontaine G., Scharfman W., Farriaux J. P. L'hyperostose corticale généralisée á transmission dominante (type Worth. Arch Fr Pediatr. 1971 Aug-Sep;28(7):685–698. [PubMed] [Google Scholar]
  15. McKusick V. A., Scott C. I. A nomenclature for constitutional disorders of bone. J Bone Joint Surg Am. 1971 Jul;53(5):978–986. [PubMed] [Google Scholar]
  16. Owen R. H. Van Buchem's disease (hyperostosis corticalis generalisata) Br J Radiol. 1976 Feb;49(578):126–132. doi: 10.1259/0007-1285-49-578-126. [DOI] [PubMed] [Google Scholar]
  17. RUCKER T. N., ALFIDI R. J. A RARE FAMILIAL SYSTEMIC AFFECTION OF THE SKELETON: FAIRBANK'S DISEASE. Radiology. 1964 Jan;82:63–66. doi: 10.1148/82.1.63. [DOI] [PubMed] [Google Scholar]
  18. Scott W. C., Gautby T. H. Hyperostosis corticalis generalisata familiaris. Br J Radiol. 1974 Aug;47(560):500–503. doi: 10.1259/0007-1285-47-560-500. [DOI] [PubMed] [Google Scholar]
  19. Sedano H. D., Gorlin R. J., Anderson V. E. Pycnodysostosis. Clinical and genetic considerations. Am J Dis Child. 1968 Jul;116(1):70–77. doi: 10.1001/archpedi.1968.02100020072010. [DOI] [PubMed] [Google Scholar]
  20. Spiro P. C., Hamersma H., Beighton P. Radiology of the autosomal dominant form of craniometaphyseal dysplasia. S Afr Med J. 1975 May 17;49(21):839–842. [PubMed] [Google Scholar]
  21. Stool S. E., Caruso V. G. Cranial metaphyseal dysplasia. Otolaryngologic aspects. Arch Otolaryngol. 1973 May;97(5):410–412. doi: 10.1001/archotol.1973.00780010422014. [DOI] [PubMed] [Google Scholar]
  22. Sugiura Y., Yamada Y., Ko J. Pycnodysostosis in Japan: report of six cases and a review of Japaneses literature. Birth Defects Orig Artic Ser. 1974;10(12):78–98. [PubMed] [Google Scholar]
  23. Sugiura Y., Yasuhara T. Sclerosteosis. A case report. J Bone Joint Surg Am. 1975 Mar;57(2):273–277. [PubMed] [Google Scholar]
  24. THOMSON J. Osteopetrosis in successive generations. Arch Dis Child. 1949 Jun;24(118):143–148. doi: 10.1136/adc.24.118.143. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. TIPS R. L., LYNCH H. T. Malignant congenital osteopetrosis resulting from a consanguineous marriage. Acta Paediatr. 1962 Sep;51:585–588. doi: 10.1111/j.1651-2227.1962.tb06584.x. [DOI] [PubMed] [Google Scholar]
  26. VAN BUCHEM F. S., HADDERS H. N., HANSEN J. F., WOLDRING M. G. Hyperostosis corticalis generalisata. Report of seven cases. Am J Med. 1962 Sep;33:387–397. doi: 10.1016/0002-9343(62)90235-8. [DOI] [PubMed] [Google Scholar]
  27. VAN BUCHEM F. S., HADDERS H. N., UBBENS R. An uncommon familial systemic disease of the skeleton: hyperostosis corticalis generalisata familiaris. Acta radiol. 1955 Aug;44(2):109–120. [PubMed] [Google Scholar]
  28. Waziri M., Zellweger H., Seibert J. Letter: Parental consanguinity in pycnodysostosis. Lancet. 1976 Jan 31;1(7953):257–258. doi: 10.1016/s0140-6736(76)91390-8. [DOI] [PubMed] [Google Scholar]
  29. Wolpowitz A., Matisonn A. A comparative study of pycnodysostosis, cleidocranial dysostosis, osteopetrosis and acro-osteolysis. S Afr Med J. 1974 May 18;48(24):1011–1018. [PubMed] [Google Scholar]
  30. Worth H. M., Wollin D. G. Hyperostosis corticalis generalisata congenita. J Can Assoc Radiol. 1966 Jun;17(2):67–74. [PubMed] [Google Scholar]
  31. de Almeida L. M. Contribution à l'étude génétique de la pycnodysostose. Ann Genet. 1972 Jun;15(2):99–101. [PubMed] [Google Scholar]
  32. van Buchem F. S. Hyperostosis corticalis generalisata. Eight new cases. Acta Med Scand. 1971 Apr;189(4):257–267. [PubMed] [Google Scholar]

Articles from Postgraduate Medical Journal are provided here courtesy of BMJ Publishing Group

RESOURCES