Geleophysic Dysplasia

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Xu, C. Geleophysic Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/3977 (accessed on 26 September 2026).

Xu C. Geleophysic Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/3977. Accessed September 26, 2026.

Xu, Camila. "Geleophysic Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/3977 (accessed September 26, 2026).

Xu, C. (2020, December 23). Geleophysic Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/3977

Xu, Camila. "Geleophysic Dysplasia." Encyclopedia. Web. 23 December, 2020.

Geleophysic Dysplasia

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/geleophysic-dysplasia

Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.

genetic conditions

References

Giray O, Kýr M, Bora E, Saylam G, Ugurlu B, Gürel D. Clinical andmorphological phenotype of geleophysic dysplasia. Ann Trop Paediatr. 2008Jun;28(2):161-4. doi: 10.1179/146532808X302206.
Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F,Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M,Munnich A, Apte SS, Cormier-Daire V. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailabilityregulation. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.
Marzin P, Cormier-Daire V. Geleophysic Dysplasia. 2009 Sep 22 [updated 2018Oct 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK11168/
Pontz BF, Stöss H, Henschke F, Freisinger P, Karbowski A, Spranger J. Clinicaland ultrastructural findings in three patients with geleophysic dysplasia. Am JMed Genet. 1996 May 3;63(1):50-4.
Rosser EM, Wilkinson AR, Hurst JA, McGaughran JM, Donnai D. Geleophysicdysplasia: a report of three affected boys--prenatal ultrasound does not detectrecurrence. Am J Med Genet. 1995 Sep 11;58(3):217-21.
Santolaya JM, Groninga LC, Delgado A, Monasterio JL, Camarero C, Bilbao FJ.Patients with geleophysic dysplasia are not always geleophysic. Am J Med Genet.1997 Oct 3;72(1):85-90. Review.
Scott A, Yeung S, Dickinson DF, Karbani G, Crow YJ. Natural history of cardiacinvolvement in geleophysic dysplasia. Am J Med Genet A. 2005 Jan30;132A(3):320-3. Review.
Shohat M, Gruber HE, Pagon RA, Witcoff LJ, Lachman R, Ferry D, Flaum E, RimoinDL. Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver,heart, and trachea. J Pediatr. 1990 Aug;117(2 Pt 1):227-32.
Wraith JE, Bankier A, Chow CW, Danks DM, Sardharwalla IB. Geleophysicdysplasia. Am J Med Genet. 1990 Feb;35(2):153-6.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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