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Baylor University Medical Center Proceedings
The peer-reviewed journal of Baylor Scott & White Health
Volume 32, 2019 - Issue 1
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Editorials

Diagnostic and prognostic problems with the Prader-Willi syndrome

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Pages 167-168 | Received 23 Sep 2018, Accepted 25 Oct 2018, Published online: 11 Jan 2019

  • Kalsner L, Chamberlain SJ. Prader-Willi, Angelman, and 15q11-q13 duplication syndromes. Pediatr Clin North Am. 2015;62(3):587–606. doi:10.1016/j.pcl.2015.03.004.
  • Aycan Z, Baş VN. Prader-Willi syndrome and growth hormone deficiency. J Clin Res Pediatr Endocrinol. 2014;6(2):62–7. doi:10.4274/Jcrpe.1228.
  • Rocha CF, Paiva CLA. Prader-Willi–like phenotypes: a systematic review of their chromosomal abnormalities. Genet Mol Res. 2014;13(1):2290–2298. doi:10.4238/2014.March.31.9.
  • Zellweger H. Differential diagnosis in Prader-Willi syndrome. In: Greenswag LR, Alexander RC, eds. Management of Prader-Willi Syndrome. New York: Springer; 1988: 15–22.
  • Smith A, Jauch A, Slater H, Robson L, Sandanam T. Syndromal obesity due to paternal duplication 6(q24.3-q27). Am J Med Genet. 1999;84(2):125–131.
  • McCandless SE; Committee on Genetics. Clinical report—health supervision for children with Prader-Willi syndrome. Pediatrics. 2011;127(1):195–204. doi:10.1542/peds.2010-2820.
  • Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012;14(1):10–26. doi:10.1038/gim.0b013e31822bead0.
  • Boer H, Holland A, Whittington J, Butler J, Webb T, Clarke D. Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet. 2002;359(9301):135–136. doi:10.1016/S0140-6736(02)07340-3.
  • Ramsden SC, Clayton-Smith J, Birch R, Buiting K. Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC Med Genet. 2010;11(1):70. doi:10.1186/1471-2350-11-70.
  • Sinnema M, Einfeld SL, Schrander-Stumpel CTRM, Maaskant MA, Boer H, Curfs LMG. Behavioral phenotype in adults with Prader-Willi syndrome. Res Dev Disabil. 2011;32(2):604–612. doi:10.1016/j.ridd.2010.12.014.
  • Kim S-J, Miller JL, Kuipers PJ, et al. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet. 2011;20(3):283–290. doi:10.1038/ejhg.2011.187.
  • Mignon-Ravix C, Depetris D, et al. Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations. Eur J Hum Genet. 2007;15(4):432–440. doi:10.1038/sj.ejhg.5201775.
  • Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet. 2001;2(1):153–175. doi:10.1146/annurev.genom.2.1.153.
  • Smith A, Hung D. The dilemma of diagnostic testing for Prader-Willi syndrome. Transl Pediatr. 2017;6(1):46–56. doi:10.21037/tp.2016.07.04.
  • Dulka S, Choudhary AK, Methratta S, Fortuna K. Blount disease in a case of Prader-Willi syndrome: why is it not as prevalent as in obesity without Prader-Willi syndrome? World J Pediatr. 2013;9(2):182–184. doi:10.1007/s12519-011-0315-3.
  • Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet. 2013;21(1):8–13. doi:10.1038/ejhg.2012.115.
  • Shoffstall AJ, Gaebler JA, et al. The high direct medical costs of Prader-Willi syndrome. J Pediatr. 2016;175:137–143. doi:10.1016/j.jpeds.2016.05.018.

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