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Xu, R. Peters Plus Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5311 (accessed on 21 September 2026).
Xu R. Peters Plus Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5311. Accessed September 21, 2026.
Xu, Rita. "Peters Plus Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5311 (accessed September 21, 2026).
Xu, R. (2020, December 24). Peters Plus Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5311
Xu, Rita. "Peters Plus Syndrome." Encyclopedia. Web. 24 December, 2020.
Peters Plus Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/peters-plus-syndrome

Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.

genetic conditions

References

  1. Hess D, Keusch JJ, Oberstein SA, Hennekam RC, Hofsteenge J. Peters Plussyndrome is a new congenital disorder of glycosylation and involves defectiveOmicron-glycosylation of thrombospondin type 1 repeats. J Biol Chem. 2008 Mar21;283(12):7354-60. doi: 10.1074/jbc.M710251200.
  2. Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT,Breuning MH, Hennekam RC. Peters Plus syndrome is caused by mutations in B3GALTL,a putative glycosyltransferase. Am J Hum Genet. 2006 Sep;79(3):562-6.
  3. Lesnik Oberstein SAJ, Ruivenkamp CAL, Hennekam RC. Peters Plus Syndrome. 2007 Oct 8 [updated 2017 Aug 24]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1464/
  4. Maillette de Buy Wenniger-Prick LJ, Hennekam RC. The Peters' plus syndrome: a review. Ann Genet. 2002 Apr-Jun;45(2):97-103. Review.
  5. Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, HoffmanJ, Khan A, Paradiso C, Ron N, Bergner A, Semina EV. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A. 2008 Oct 15;146A(20):2603-10. doi:10.1002/ajmg.a.32498.
  6. Schoner K, Kohlhase J, Müller AM, Schramm T, Plassmann M, Schmitz R, Neesen J,Wieacker P, Rehder H. Hydrocephalus, agenesis of the corpus callosum, and cleftlip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst andencephalocele. Prenat Diagn. 2013 Jan;33(1):75-80. doi: 10.1002/pd.4012.
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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: 950
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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