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Yang, C. Beare-Stevenson Cutis Gyrata Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4937 (accessed on 26 September 2026).
Yang C. Beare-Stevenson Cutis Gyrata Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4937. Accessed September 26, 2026.
Yang, Catherine. "Beare-Stevenson Cutis Gyrata Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4937 (accessed September 26, 2026).
Yang, C. (2020, December 24). Beare-Stevenson Cutis Gyrata Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4937
Yang, Catherine. "Beare-Stevenson Cutis Gyrata Syndrome." Encyclopedia. Web. 24 December, 2020.
Beare-Stevenson Cutis Gyrata Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/beare-stevenson-cutis-gyrata-syndrome

Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

genetic conditions

References

  1. Chen L, Deng CX. Roles of FGF signaling in skeletal development and humangenetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review.
  2. Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH. The firstKorean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in thefibroblast growth factor receptor 2 gene. J Korean Med Sci. 2007 Apr;22(2):352-6.
  3. Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM Jr. Beare-Stevenson cutisgyrata syndrome. Am J Med Genet. 1992 Sep 1;44(1):82-9.
  4. Izakovic J, Leitner S, Schachner LA. What syndrome is this? Beare-Stevensoncutis gyrata syndrome. Pediatr Dermatol. 2003 Jul-Aug;20(4):358-60.
  5. McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T. A case of Beare-Stevenson syndrome with a broad spectrum of features and a reviewof the FGFR2 Y375C mutation phenotype. Clin Dysmorphol. 2006 Apr;15(2):89-93.Review.
  6. Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, HallBD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW. Fibroblast growth factor receptor2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996Aug;13(4):492-4.
  7. Ron N, Leung S, Carney E, Gerber A, David KL. A Case of Beare-StevensonSyndrome with Unusual Manifestations. Am J Case Rep. 2016 Apr 15;17:254-8.
  8. Vargas RA, Maegawa GH, Taucher SC, Leite JC, Sanz P, Cifuentes J, Parra M,Muñoz H, Maranduba CM, Passos-Bueno MR. Beare-Stevenson syndrome: Two SouthAmerican patients with FGFR2 analysis. Am J Med Genet A. 2003 Aug15;121A(1):41-6.
  9. Wang TJ, Huang CB, Tsai FJ, Wu JY, Lai RB, Hsiao M. Mutation in the FGFR2 genein a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. Clin Genet.2002 Mar;61(3):218-21.
  10. Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998Oct 20 [updated 2020 Apr 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1455/
  11. Wenger TL, Bhoj EJ, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ,McDonald-McGinn DM, Zackai EH. Beare-Stevenson syndrome: two new patients,including a novel finding of tracheal cartilaginous sleeve. Am J Med Genet A.2015 Apr;167A(4):852-7. doi: 10.1002/ajmg.a.36985.
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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
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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