Prader-Willi Syndrome Differential Diagnoses

1. Down JL. Mental Affections of Childhood and Youth. 1887. 172.

2. Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter. Schweiz Med Wschr. 1956. 86:1260-1.

3. Ledbetter DH, Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet. 1995. 4 Spec No:1757-64. [Medline].

4. Ledbetter DH, Riccardi VM, Airhart SD, et al. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med. 1981 Feb 5. 304(6):325-9. [Medline].

5. Goldstone AP, Holland AJ, Hauffa BP, et al. Recommendations for the Diagnosis and Management of Prader-Willi Syndrome. J Clin Endocrinol Metab. 2008. 93:4183-97. [Medline].

6. Reychler A. [Cephalometric analysis]. Acta Stomatol Belg. 1976. 73(4):403-21. [Medline].

7. West LA, Ballock RT. High Incidence of Hip Dysplasia but not Slipped Capital Femoral Epiphysis in Patients With Prader-Willi Syndrome. J Pediatr Orthop. 2004. 24:565-7. [Medline].

8. Miller J, Silverstein J, Shuster J, Driscoll DJ, Wagner M. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. J Clin Endcrinol Metabo. 2006 Feb. 91(2):413-7. [Medline].

9. Pandey SN, Vaidya RA, Irani A. Growth hormone treatment in a girl with Prader Willi syndrome. Indian J Pediatr. Apr 2003. 70(4):351-3. [Medline].

10. Canadian Agency for Drugs and Technologies in Health. Human Growth Hormone Treatment for Prader-Willi Syndrome in Adolescent and Adult Patients: Clinical Evidence, Safety, and Guidelines. Ottawa, ON: 2015 Nov 06. [Full Text].

11. Wharton RH, Wang T, Graeme-Cook F, et al. Acute idiopathic gastric dilation with gastric necrosis in individuals with Prader-Willi syndrome. Am J Med Genet. Dec 31 1997. 73(4):437-41. [Medline].

12. Stevenson DA, Heinemann J, Angula M, et al. Gastric Rupture and Necrosis in Prader-Willi Syndrome. J Pediatr Gastroenterol Nutr. 2007. 45:272-4. [Medline].

13. Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989 Nov 16. 342(6247):281-5. [Medline].

14. Butler MG, Hartin SN, Hossain WA, et al. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. J Med Genet. 2018 May 5. [Medline].

15. Nicholls RD. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet. 1993 Apr 1. 46(1):16-25. [Medline].

16. Robinson WP, Langlois S, Schuffenhauer S, et al. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat Diagn. Sep 1996. 16(9):837-44. [Medline].

17. Gold JA, Mahmoud R, Cassidy SB, Kimonis V. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. Am J Med Genet A. 2018 May. 176 (5):1161-5. [Medline].

18. Buiting K, Gross S, Lich C, et al. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet. 2003 Mar. 72(3):571-7. [Medline].

19. Buiting K, Saitoh S, Gross S, et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet. 1995 Apr. 9(4):395-400. [Medline].

20. Rinchik EM, Bultman SJ, Horsthemke B, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993 Jan 7. 361(6407):72-6. [Medline].

21. MacDonald HR, Wevrick R. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum Mol Genet. 1997 Oct. 6(11):1873-8. [Medline].

22. Butler MG, Hossain WA, Tessman R, Krishnamurthy PC. Preliminary observations of mitochondrial dysfunction in Prader-Willi syndrome. Am J Med Genet A. 2018 Oct 5. [Medline].

23. Cummings DE, Clement K, Purnell JQ, et al. Elevated plasma ghrelin levels in Prader Willi syndrome. Nat Med. 2002 Jul. 8(7):643-4. [Medline].

24. Haqq AM, Stadler DD, Rosenfeld RG, et al. Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. J Clin Endocrinol Metab. Aug 2003. 88(8):3573-6. [Medline].

25. Goldstone AP, Patterson M, Kalingag N, et al. Fasting and postprandial hyperghrelinemia in Prader-Willi syndrome is partially explained by hypoinsulinemia, and is not due to peptide YY3-36 deficiency or seen in hypothalamic obesity due to craniopharyngioma. J Clin Endocrinol Metab. 2005 May. 90(5):2681-90. [Medline].

26. Burd L, Vesely B, Martsolf J, Kerbeshian J. Prevalence study of Prader-Willi syndrome in North Dakota. Am J Med Genet. 1990 Sep. 37(1):97-9. [Medline].

27. Butler MG. Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns. Am J Med Genet. 1996 Jan 11. 61(2):188-90. [Medline].

28. Akefeldt A, Gillberg C, Larsson C. Prader-Willi syndrome in a Swedish rural county: epidemiological aspects. Dev Med Child Neurol. Aug 1991. 33(8):715-21. [Medline].

29. Ehara H, Ohno K, Takeshita K. Frequency of the Prader-Willi syndrome in the San-in district, Japan. Brain Dev. Sep-Oct 1995. 17(5):324-6. [Medline].

30. Whittington JE, Holland AJ, Webb T, et al. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. J Med Genet. 2001 Nov. 38(11):792-8. [Medline].

31. Lamb AS, Johnson WM. Premature coronary artery atherosclerosis in a patient with Prader-Willi syndrome. Am J Med Genet. 1987 Dec. 28(4):873-80. [Medline].

32. Stevenson DA, Heinemann J, Angulo M, et al. Deaths due to choking in Prader-Willi syndrome. Am J Med Genet A. 2007 Mar 1. 143(5):484-7. [Medline].

33. Stevenson Da, Anaya TM, Clayton-Smith J, et al. Unexpected Death and Critical Illness in Prader-Willi Syndrome: Report of Ten Individuals. Amer J Med Genet A. 2004. 124A:158-64. [Medline].

34. Nyunt O, Cotterill AM, Archbold SM, et al. Normal cortisol response on low-dose synacthen (1 microg) test in children with Prader Willi syndrome. J Clin Endocrinol Metab. 2010 Dec. 95(12):E464-7. [Medline].

35. Manzardo AM, Loker J, Heinemann J, Loker C, Butler MG. Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey. Genet Med. 2017 Jul 6. [Medline].

36. Hudgins L, Geer JS, Cassidy SB. Phenotypic differerencss in African Americans with Prader-Willi syndrome. Genet Med. 1998 Nov-Dec. 1(1):49-51. [Medline].

37. Cassidy SB, Schwartz S. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine (Baltimore). 1998 Mar. 77(2):140-51. [Medline].

38. Cizmecioglu FM, Jones JH, Paterson WF, et al. Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. J Clin Res Pediatr Endocrinol. 2018 Jul 31. 10 (3):264-73. [Medline]. [Full Text].

39. Lee PD. Endocrine and metabolic aspects of Prader-willi syndrome. Greenswag LR, Alexander RC, eds. Management of Prader-willi Syndrome. 2nd ed. New York, NY: Springer-Verlag; 1995. 32-57.

40. Kaplan J, Fredrickson PA, Richardson JW. Sleep and breathing in patients with the Prader-Willi syndrome. Mayo Clin Proc. 1991 Nov. 66(11):1124-6. [Medline].

41. Dykens EM, Hodapp RM, Walsh K, Nash LJ. Profiles, correlates, and trajectories of intelligence in Prader-Willi syndrome. J Am Acad Child Adolesc Psychiatry. Nov 1992. 31(6):1125-30. [Medline].

42. Greenswag LR. Adults with Prader-Willi syndrome: a survey of 232 cases. Dev Med Child Neurol. 1987 Apr. 29(2):145-52. [Medline].

43. Martin A, State M, Koenig K, et al. Prader-Willi syndrome. Am J Psychiatry. 1998 Sep. 155(9):1265-73. [Medline].

44. Soni S, Whittington J, Holland AJ, et al. The Phenomenology and Diagnosis of Psychiatric Illness in People with Prader-Willi Syndrome. Psychol Med. 2008. 38:1505-14. [Medline].

45. Morel A, Peyroux E, Leleu A, Favre E, Franck N, Demily C. Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype. Front Pediatr. 2018. 6:102. [Medline]. [Full Text].

46. Gito M, Ihara H, Ogata H, et al. Gender Differences in the Behavioral Symptom Severity of Prader-Willi Syndrome. Behav Neurol. 2015. 2015:294127. [Medline].

47. [Guideline] Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993 Feb. 91(2):398-402. [Medline].

48. Gurd AR, Thompson TR. Scoliosis in Prader-Willi syndrome. J Pediatr Orthop. 1981. 1(3):317-20. [Medline].

49. ASHG/ACMG Test and Technology Transfer Committee. Diagnostic testing for Prader-Willi and Angleman syndromes. Am J Hum Genet. 1996 May. 58(5):1085-8. [Medline].

50. O'Donoghue FJ, Camfferman D, Kennedy JD, et al. Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalities. J Pediatr. 2005 Dec. 147(6):832-9. [Medline].

51. Schluter B, Buschatz D, Trowitzsch E, et al. Respiratory control in children with Prader-Willi syndrome. Eur J Pediatr. Jan 1997. 156(1):65-8. [Medline].

52. Bakker NE, Siemensma EP, van Rijn M, Festen DA, Hokken-Koelega AC. Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study. Horm Res Paediatr. 2015. 84 (4):231-9. [Medline].

53. Donze SH, Damen L, Mahabier EF, Hokken-Koelega ACS. Improved Mental and Motor Development During 3 Years of GH Treatment in Very Young Children With Prader-Willi Syndrome. J Clin Endocrinol Metab. 2018 Oct 1. 103 (10):3714-9. [Medline]. [Full Text].

54. Scheermeyer E, Harris M, Hughes I, et al. Low dose growth hormone treatment in infants and toddlers with Prader-Willi syndrome is comparable to higher dosage regimens. Growth Horm IGF Res. 2017 Mar 24. 34:1-7. [Medline].

55. Miller JL, Tamura R, Butler MG, et al. Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study. Am J Med Genet A. 2017 May. 173 (5):1243-50. [Medline].

56. Soper RT, Mason EE, Printen KJ, Zellweger H. Gastric bypass for morbid obesity in children and adolescents. J Pediatr Surg. 1975 Feb. 10(1):51-8. [Medline].

57. Scheimann AO, Butler MG, Gourash L, Cuffari C, Klish W. Critical Analysis of Bariatric Procedures in Prader-Willi Syndrome. J Pediatr Gastroenterol Nutr. 2008. 46:80-3. [Medline].

58. Bistrian BR, Blackburn GL, Stanbury JB. Metabolic Aspects of a Protein-Sparing Modified Fast in the Dietary Management of Prader-Willi Obesity. N Eng J Med. 1977. 296:774-9. [Medline].

59. Miller JL, Lynn CH, Driscoll DC, et al. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011 May. 155(5):1040-9. [Medline].

60. Coppes MJ, Sohl H, Teshima IE, et al. Wilms tumor in a patient with Prader-Willi syndrome. J Pediatr. 1993 May. 122(5 Pt 1):730-3. [Medline].

61. Jaffray B, Moore L, Dickson AP. Prader-Willi syndrome and intratubular germ cell neoplasia. Med Pediatr Oncol. Jan 1999. 32(1):73-4. [Medline].

62. Nakajima K, Sakurai A, Kubota T, et al. Multiple endocrine neoplasia type 1 concomitant with Prader-Willi syndrome: case report and genetic diagnosis. Am J Med Sci. 1999 May. 317(5):346-9. [Medline].

63. Hall BD. Leukaemia and the Prader-Willi syndrome. Lancet. 1985 Jan 5. 1(8419):46. [Medline].

Ann Scheimann, MD, MBA Associate Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution

Ann Scheimann, MD, MBA is a member of the following medical societies: North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Eric T Rush, MD, FAAP, FACMG Associate Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Clinical Geneticist, Children's Mercy Hospital of Kansas City

Eric T Rush, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American College of Physicians, American Society for Bone and Mineral Research

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Alexion Pharmaceuticals, Ultragenyx Pharmaceutical, Biomarin Pharmaceuticals, ObsEva, Ascendis Pharma<br/>Serve(d) as a speaker or a member of a speakers bureau for: Alexion Pharmaceuticals, Ultragenyx Pharmaceutical, and Biomarin Pharmaceuticals<br/>Received research grant from: Alexion Pharmaceuticals.

Luis O Rohena, MD, MS, FAAP, FACMG Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Michael Fasullo, PhD Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article