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Xu, R. Osteoglophonic Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4830 (accessed on 26 September 2026).
Xu R. Osteoglophonic Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4830. Accessed September 26, 2026.
Xu, Rita. "Osteoglophonic Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/4830 (accessed September 26, 2026).
Xu, R. (2020, December 24). Osteoglophonic Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/4830
Xu, Rita. "Osteoglophonic Dysplasia." Encyclopedia. Web. 24 December, 2020.
Osteoglophonic Dysplasia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia

Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.

genetic conditions

References

  1. Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR,Pitukcheewanont P, White KE. Extended mutational analyses of FGFR1 inosteoglophonic dysplasia. Am J Med Genet A. 2006 Mar 1;140(5):537-9.
  2. Shankar VN, Ajila V, Kumar G. Osteoglophonic dysplasia: a case report. J Oral Sci. 2010 Mar;52(1):167-71.
  3. Sklower Brooks S, Kassner G, Qazi Q, Keogh MJ, Gorlin RJ. Osteoglophonicdysplasia: review and further delineation of the syndrome. Am J Med Genet. 1996Dec 11;66(2):154-62. Review.
  4. Sow AJ, Ramli R, Latiff ZA, Ichikawa S, Gray AK, Nordin R, Abd Jabar MN,Primuharsa Putra SH, Siar CH, Econs MJ. Osteoglophonic dysplasia: A 'common'mutation in a rare disease. Clin Genet. 2010 Aug;78(2):197-8. doi:10.1111/j.1399-0004.2010.01382.x.
  5. White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ.Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 inbone elongation. Am J Hum Genet. 2005 Feb;76(2):361-7.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 1.0K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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