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Craniometaphyseal Dysplasia

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Atlas of Genetic Diagnosis and Counseling
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Abstract

In 1954, Jackson et al. (1954) coined the term “craniometaphyseal dysplasia” for a hereditary bone disease with metaphyseal widening of the tubular bones and bony overgrowth of the facial and skull bones (leonteasis ossea).

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References

  • Baynam, G., Goldblatt, J., & Schofield, L. (2009). Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. American Journal of Medical Genetics. Part A, 149A, 1331–1333.

    Article  CAS  PubMed  Google Scholar 

  • Beighton, P. (1995). Craniometaphyseal dysplasia (CMD), autosomal dominant form. Journal of Medical Genetics, 32, 370–374.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Beighton, P., Hamersma, H., & Horan, F. (1979). Craniometaphyseal dysplasia-variability of expression within a large family. Clinical Genetics, 15, 252–258.

    Article  CAS  PubMed  Google Scholar 

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

    Article  PubMed  Google Scholar 

  • Bricker, S. L., Langlais, R. P., & van Dis, M. L. (1983). Dominant craniometaphyseal dysplasia. Literature review and case report. Dento Maxillo Facial Radiology, 12, 95–100.

    Article  CAS  PubMed  Google Scholar 

  • Carnevale, A., Grether, P., del Castillo, V., et al. (1983). Autosomal dominant craniometaphyseal dysplasia. Clinical variability. Clinical Genetics, 23, 17–22.

    Article  CAS  PubMed  Google Scholar 

  • Chandler, D., Tinschert, S., Lohan, K., et al. (2001). Refinement of the chromosome 5p locus for craniometaphyseal dysplasia. Human Genetics, 108, 394–397.

    Article  CAS  PubMed  Google Scholar 

  • Chen, I.–. P., Tadinada, A., Dutra, E. H., et al. (2014). Dental anomalies associated with craniometaphyseal dysplasia. Journal of Dental Research, 93, 553–558.

    Article  PubMed  PubMed Central  Google Scholar 

  • Cheung, V. G., Boechat, M. I., & Barrett, C. T. (1997). Bilateral choanal narrowing as a presentation of craniometaphyseal dysplasia. Journal of Perinatology, 17, 241–243.

    CAS  PubMed  Google Scholar 

  • Cole, D. E., & Cohen, M. M., Jr. (1988). A new look at craniometaphyseal dysplasia. Journal of Pediatrics, 112, 577–579.

    Article  CAS  PubMed  Google Scholar 

  • Cooper, J. C. (1974). Craniometaphyseal dysplasia: A case report and review of the literature. The British Journal of Oral Surgery, 12, 196–204.

    Article  CAS  PubMed  Google Scholar 

  • Day, R. A., Park, T. S., Ojemann, J. G., et al. (1997). Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: Case report. Neurosurgery, 41, 960–964.

    Article  CAS  PubMed  Google Scholar 

  • Fanconi, S., Fischer, J. A., Wieland, P., et al. (1988). Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: Therapeutic effect of calcitonin. Journal of Pediatrics, 112, 587–591.

    Article  CAS  PubMed  Google Scholar 

  • Gorlin, R. J., Koszalka, M. F., & Spranger, J. (1970). Pyle’s disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia. Journal of Bone and Joint Surgery (American Volume), 52, 347–354.

    Article  CAS  Google Scholar 

  • Iughetti, P., Alonso, L. G., Wilcox, W., et al. (2000). Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. American Journal of Medical Genetics, 95, 482–491.

    Article  CAS  PubMed  Google Scholar 

  • Jackson, W. P. U., Albright, F., Drewry, G., et al. (1954). 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”. Archives of Internal Medicine, 94, 871–885.

    Article  CAS  PubMed  Google Scholar 

  • Jenkins, Z. A., van Kogelenberg, M., Morgan, T., et al. (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41, 5–100.

    Article  Google Scholar 

  • Kato, T., Matsumoto, H., Chida, A., et al. (2013). Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia. Pediatrics International, 55, 254–256.

    Article  CAS  PubMed  Google Scholar 

  • Key, L. L., Jr., Volberg, F., Baron, R., et al. (1988). Treatment of craniometaphyseal dysplasia with calcitriol. Journal of Pediatrics, 112, 583–587.

    Article  PubMed  Google Scholar 

  • Kietzer, G., & Paparella, M. M. (1969). Otolaryngological disorders in craniometaphyseal dysplasia. The Laryngoscope, 79, 921–941.

    Article  CAS  PubMed  Google Scholar 

  • Kornak, U., Brancati, F., Le Merrer, M., et al. (2010). Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. American Journal of Medical Genetics. Part A, 152A, 870–874.

    Article  CAS  PubMed  Google Scholar 

  • Nürnberg, P., Tinschert, S., Mrug, M., et al. (1997). The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. American Journal of Human Genetics, 61, 918–923.

    Article  PubMed  PubMed Central  Google Scholar 

  • Nürnberg, P., Thiele, H., Chandler, D., et al. (2001). Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nature Genetics, 28, 37–41.

    PubMed  Google Scholar 

  • Penchaszadeh, V. B., Gutierrez, E. R., & Figueroa, E. (1980). Autosomal recessive craniometaphyseal dysplasia. American Journal of Medical Genetics, 5, 43–55.

    Article  CAS  PubMed  Google Scholar 

  • Pendleton, A., Johnson, M. D., Hughes, A., et al. (2002). Mutations in ANKH cause chondrocalcinosis. American Journal of Human Genetics, 71, 933–940.

    Article  PubMed  PubMed Central  Google Scholar 

  • Prontera, P., Rogaia, D., Sobacchi, C., et al. (2011). Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. American Journal of Medical Genetics. Part A, 155, 1106–1108.

    Article  CAS  Google Scholar 

  • Reichenberger, E., & Chen, I. -P. (2015). Craniometaphyseal dysplasia, autosomal dominant. GeneReviews. Retrieved January 15, 2015. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1461/

  • Reichenberger, E., Tiziani, V., Watanabe, S., et al. (2001). Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. American Journal of Human Genetics, 68, 1321–1326.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Twigg, V., Carr, S., Peres, C., et al. (2015). Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature. International Journal of Pediatric Otorhinolaryngology, 79, 935–937.

    Article  CAS  PubMed  Google Scholar 

  • Williams, C. J., Pendleton, A., Bonavita, G., et al. (2003). Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. Arthritis and Rheumatism, 48, 2627–2631.

    Article  CAS  PubMed  Google Scholar 

  • Yamamoto, T., Kurihara, N., Yamaoka, K., et al. (1993). Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump. Journal of Clinical Investigation, 91, 362–367.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Zajac, A., Baek, S. H., Salhab, I., et al. (2010). Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia. American Journal of Medical Genetics. Part A, 152A, 770–776.

    Article  PubMed  PubMed Central  Google Scholar 

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Chen, H. (2017). Craniometaphyseal Dysplasia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_59

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_59

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