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Yang, C. Camurati-Engelmann Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5137 (accessed on 22 September 2026).
Yang C. Camurati-Engelmann Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5137. Accessed September 22, 2026.
Yang, Catherine. "Camurati-Engelmann Disease" Encyclopedia, https://encyclopedia.pub/entry/5137 (accessed September 22, 2026).
Yang, C. (2020, December 24). Camurati-Engelmann Disease. In Encyclopedia. https://encyclopedia.pub/entry/5137
Yang, Catherine. "Camurati-Engelmann Disease." Encyclopedia. Web. 24 December, 2020.
Camurati-Engelmann Disease
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/camurati-engelmann-disease

Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull.

genetic conditions

References

  1. Carlson ML, Beatty CW, Neff BA, Link MJ, Driscoll CL. Skull basemanifestations of Camurati-Engelmann disease. Arch Otolaryngol Head Neck Surg.2010 Jun;136(6):566-75. doi: 10.1001/archoto.2010.68. Review.
  2. Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W. Transforminggrowth factor-beta 1 mutations in Camurati-Engelmann disease lead to increasedsignaling by altering either activation or secretion of the mutant protein. JBiol Chem. 2003 Feb 28;278(9):7718-24.
  3. Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L,Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C,Simsek S, Melançon S, Cundy T, Van Hul W. Camurati-Engelmann disease: review ofthe clinical, radiological, and molecular data of 24 families and implicationsfor diagnosis and treatment. J Med Genet. 2006 Jan;43(1):1-11.Review.
  4. Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. Marked phenotypicvariability in progressive diaphyseal dysplasia (Camurati-Engelmann disease):report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A. 2004 Sep 1;129A(3):235-47.
  5. Yuldashev AJ, Shin CH, Kim YS, Jang WY, Park MS, Chae JH, Yoo WJ, Choi IH, KimOH, Cho TJ. Orthopedic Manifestations of Type I Camurati-Engelmann Disease. Clin Orthop Surg. 2017 Mar;9(1):109-115. doi: 10.4055/cios.2017.9.1.109.
  6. Zhao L, Hantash BM. TGF-β1 regulates differentiation of bone marrowmesenchymal stem cells. Vitam Horm. 2011;87:127-41. doi:10.1016/B978-0-12-386015-6.00042-1. Review.
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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 : Catherine Yang
View Times: 993
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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