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Prader-Willi syndrom

Prader-Willi syndrom er en medfødt, arvelig forstyrrelse som skyldes skade på arveanlegget.

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Hva er Prader-Willi syndrom?

Årsak

Symptomer ved ubehandlet tilstand

Symptomer ved behandlet tilstand

Diagnostikk

Behandling

Prognose

Genetisk rådgiving

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Referanser

Dette dokumentet er basert på det profesjonelle dokumentet Prader-Willi syndrom. Referanselisten for dette dokumentet vises nedenfor.

  1. Wattendorf DJ, Muenke M. Prader-Willi syndrome. Am Fam Physician 2005; 72: 827-30. PubMed 
  2. Scheimann AO. Clinical features, diagnosis, and treatment of Prader-Willi syndrome. UpToDate, last updated May 14, 2015. UpToDate 
  3. Wigren M, Hansen S. Prader-Willi syndrome: clinical picture, psychosocial support and current management. Child Care Health Dev 2003; 29: 449-56. PubMed 
  4. Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients. Clin Genet 2005; 67: 47-52. PubMed 
  5. Prader A, Labhart A, and Willi H. (1956). Ein syndrom von adipositas, kleinwuchs, kryplorchimus und oligophrenic nach myalonieartigen zustand im neugeborenenalter. Schweiz Medical Wochenschr 1956; 86: 1260-1. PubMed 
  6. Vogels A, Van Den Ende J, Keymolen K, Mortier G, Devriendt K, Legius E, et al. Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet 2004; 12: 238-40. PubMed 
  7. Ohta, T, Gray, TA, Rogan, PK, et al. Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 1999; 64: 397. PubMed 
  8. Cassidy, SB, Schwartz, S. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine (Baltimore) 1998; 77: 140. PubMed 
  9. Nativio DG. The genetics, diagnosis, and management of Prader-Willi syndrome. J Pediatr Health Care 2002; 16: 298-303. PubMed 
  10. Goldstone AP, Holland AJ, Hauffa BP, et al. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97. pmid:10.1210/jc.2008-0649
  11. Salehi P, Leavitt A, Beck AE, et al. Obesity management in Prader-Willi syndrome. Pediatr Endocrinol Rev 2015; 12: 297-307. pmid:25962207 PubMed 
  12. Swaab D. Prader-Willi syndrome and the hypothalamus. Acta Paediatr Supplement 1997; 423: 50-4. PubMed 
  13. Goldstone AP, Holland AJ, Hauffa BP, et al. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008; 83: 4183. pmid:18697869 PubMed 
  14. Gross N, Rabinowitz R, Gross-Tsur V, Hirsch HJ, Eldar-Geva T . Prader-Willi syndrome can be diagnosed prenatally. Am J Med Genet A 2015; 167: 80. pmid: 25338954 PubMed 
  15. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012; 14: 10-26. pmid:22237428 PubMed 
  16. Crino A, Schiaffini R, Ciampalini P, Spera S, Beccaria L, Benzi F, et al, and the Genetic Obesity Study Group of Italian Society of Pediatric endocrinology and diabetology (SIEDP). Hypogonadism and pubertal development in Prader-Willi syndrome. Eur J Pediatr 2003; 162: 327-33. PubMed 
  17. Frambu: Medisinsk beskrivelse Prader-Willi syndrom. Nettsiden besøkt 17.12.15
  18. Vendrame M, Maski KP, Chatterjee M, et al. Epilepsy in Prader-Willi syndrome: clinical characteristics and correlation to genotype. Epilepsy Behav 2010; 19: 306. pmid:20727826 PubMed 
  19. Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001; 108: E92. Pediatrics 
  20. Deal CL, Tony M, Høybye C, et al. Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome. J Clin Endocrinol Metab. 2013 Jun; 98(6): E1072–E1087 . www.ncbi.nlm.nih.gov 
  21. Schrander-Stumpel CT, Curfs LM, Sastrowijoto P, Cassidy SB, Schrander JJ, Fryns JP. Prader-Willi syndrome: causes of death in an international series of 27 cases. Am J Med Genet A 2004; 124: 333-8. PubMed 
  22. Scheimann AO, Butler MG, Gourash L, et al. Critical analysis of bariatric procedures in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr 2008; 46: 80-3. doi:18162838
  23. Aycan Z, Baş VN. Prader-Willi syndrome and growth hormone deficiency. J Clin Res Pediatr Endocrinol 2014; 6: 62-7. pmid:24932597 PubMed 
  24. Cataletto, M., Angulo, M., Hertz, G. et al. Prader-Willi syndrome: A primer for clinicians. Int J Pediatr Endocrinol 2011, 12 (2011). doi.org