Skip to main content

Abstract

Craniometaphyseal dysplasia (CMD) is a rare craniotubular bone dysplasia in which sclerosis of the skull is associated with abnormal modeling of the metaphyses of the long bones.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Beighton P: Craniometaphyseal dysplasia (CMD), autosomal dominant form. J Med Genet 32:370–374, 1995.

    CAS  PubMed  Google Scholar 

  2. Beighton P, Hamersma H, Horan F: Craniometaphyseal dysplasia—variability of expression within a large family. Clin Genet 15:252–258, 1979.

    Article  CAS  PubMed  Google Scholar 

  3. Boltshauser E, Schmitt B, Wichmann W, et al.: Cerebellomedullary compression in recessive craniometaphyseal dysplasia. Neuroradiology 38Suppl 1:S193–S195, 1996.

    PubMed  Google Scholar 

  4. Bricker SL, Langlais RP, van Dis ML: Dominant craniometaphyseal dysplasia. Literature review and case report. Dentomaxillofac Radiol 12:95–100, 1983.

    CAS  PubMed  Google Scholar 

  5. Carnevale A, Grether P, del Castillo V, et al.: Autosomal dominant craniometaphyseal dysplasia. Clinical variability. Clin Genet 23:17–22, 1983.

    Article  CAS  PubMed  Google Scholar 

  6. Chandler D, Tinschert S, Lohan K, et al.: Refinement of the chromosome 5p locus for craniometaphyseal dysplasia. Hum Genet 108:394–397, 2001.

    Article  CAS  PubMed  Google Scholar 

  7. Cheung VG, Boechat MI, Barrett CT: Bilateral choanal narrowing as a presentation of craniometaphyseal dysplasia. J Perinatol 17:241–243, 1997.

    CAS  PubMed  Google Scholar 

  8. Cole DE, Cohen MM Jr: a new look at craniometaphyseal dysplasia. J Pediatr 112:577–579, 1988.

    Article  CAS  PubMed  Google Scholar 

  9. Cooper JC: Craniometaphyseal dysplasia: a case report and review of the literature. Br J Oral Surg 12:196–204, 1974.

    Article  CAS  PubMed  Google Scholar 

  10. Day RA, Park TS, Ojemann JG, et al.: Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: case report. Neurosurgery 41:960–964, 1997.

    Article  CAS  PubMed  Google Scholar 

  11. Fanconi S, Fischer JA, Wieland P, et al.: Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitonin. J Pediatr 112:587–591, 1988.

    Article  CAS  PubMed  Google Scholar 

  12. Gorlin RJ, Spranger J, Koszalka MF: Genetic craniotubular bone dysplasias and hyperostoses: a critical analysis. Birth Defects Orig Art Ser V(4):79–95, 1969.

    Google Scholar 

  13. Gorlin RJ, Koszalka MF, Spranger J: Pyle’s disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia. J Bone Joint Surg Am 52:347–354, 1970.

    CAS  PubMed  Google Scholar 

  14. Iughetti P, Alonso LG, Wilcox W, et al.: Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21–22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet 95:482–491, 2000.

    Article  CAS  PubMed  Google Scholar 

  15. Jackson WPU, Albright F, Drewry G, et al.: Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia: their relation to leontiasis ossea and osteopetrosis: disorders of ‘bone remodeling’. Arch Intern Med 94:871–885, 1954.

    CAS  Google Scholar 

  16. Key LL Jr, Volberg F, Baron R, et al.: Treatment of craniometaphyseal dysplasia with calcitriol. J Pediatr 112:583–587, 1988.

    Article  PubMed  Google Scholar 

  17. Kietzer G, Paparella MM: Otolaryngological disorders in craniometaphyseal dysplasia. Laryngoscope 79:921–941, 1969.

    Article  CAS  PubMed  Google Scholar 

  18. Martin FW: Otorhinological aspects of craniometaphyseal dysplasia. Clin Otolaryngol 4:67–76, 1979.

    Article  CAS  PubMed  Google Scholar 

  19. Millard DR Jr, Maisels DO, Batstone JH, et al.: Craniofacial surgery in craniometaphyseal dysplasia. Am J Surg 113:615–621, 1967.

    Article  PubMed  Google Scholar 

  20. Nürnberg P, Thiele H, Chandler D, et al.: Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 28:37–41, 2001.

    Article  PubMed  Google Scholar 

  21. Nürnberg P, Tinschert S, Mrug M, et al.: The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. Am J Hum Genet 61:918–923, 1997.

    PubMed  Google Scholar 

  22. Penchaszadeh VB, Gutierrez ER, Figueroa E: Autosomal recessive craniometaphyseal dysplasia. Am J Med Genet 5:43–55, 1980.

    Article  CAS  PubMed  Google Scholar 

  23. Puri P, Chan J: Craniometaphyseal dysplasia: ophthalmic features and management. J Pediatr Ophthalmol Strabismus 40:228–231, 2003.

    CAS  PubMed  Google Scholar 

  24. Reichenberger E, Tiziani V, Watanabe S, et al.: Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 68:1321–1326, 2001.

    Article  CAS  PubMed  Google Scholar 

  25. Shea J, Gerbe R, Ayani N: Craniometaphyseal dysplasia: the first successful surgical treatment for associated hearing loss. Laryngoscope 91:1369–1374, 1981.

    Article  CAS  PubMed  Google Scholar 

  26. Yamamoto T, Kurihara N, Yamaoka K, et al.: Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump. J Clin Invest 91:362–367, 1993.

    Article  CAS  PubMed  Google Scholar 

Download references

Rights and permissions

Reprints and permissions

Copyright information

© 2006 Humana Press Inc.

About this chapter

Cite this chapter

(2006). Craniometaphyseal Dysplasia. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_47

Download citation

  • DOI: https://doi.org/10.1007/978-1-60327-161-5_47

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-681-8

  • Online ISBN: 978-1-60327-161-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics