Introduction and Overview of Prader-Willi Syndrome

  • Suzanne B. Cassidy
Part of the NATO ASI Series book series (volume 61)


In 1680, a painter to the Spanish court of King Charles II, Juan Carreno de Miranda, immortalized on canvas a six year old obese girl who was known for her “feeblemindedness” and “bad temper”. She has almond-shaped palpebral fissures, a down-turned mouth, small hands, and central obesity, all characteristic of Prader-Willi Syndrome. She hangs in the Prado Museum in Madrid, clad in one painting, nude in the other, a testimony to the fact that the condition we now know as Prader-Willi Syndrome has existed for centuries. But it was not until 1956 that Drs. Prader, Labhart and Willi first described the pattern of abnormalities which includes low muscle tone, incomplete sexual development, obesity, and mental handicap (Prader et al, 1956) and which now bears their names.


Growth Hormone Deficiency Angelman Syndrome Hypogonadotrophic Hypogonadism Genital Hypoplasia Precocious Adrenarche 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Angelman H (1965). “Puppet” children: A report on three cases. Dev Med Child Neurol 7:681–683, 1965.CrossRefGoogle Scholar
  2. Aughton DJ and Cassidy SB (1990). Physical features of Prader-Willi Syndrome in neonates. Am J Dis Child 144: 1251–1254.PubMedGoogle Scholar
  3. Bray GA, Dahms WT, Swerdloff RS, Fiser RH, Atkinson RL, Carrel RE (1983). The Prader-Willi Syndrome. Medicine 62: 59–80.PubMedCrossRefGoogle Scholar
  4. Butler MG (1990). Prader-Willi Syndrome: Current understanding of cause and diagnosis. Am J Med Genet 35: 319–332.PubMedCrossRefGoogle Scholar
  5. Butler MG, Meaney FJ, and Palmer CG (1987). Clinical and cytogenetic survey of 39 individuals with Prader-Willi Syndrome. Am J Med Genet 26: 445–455.PubMedCrossRefGoogle Scholar
  6. Butler MG and Palmar CG (1983). Parental origin of chromosome 15 deletion in Prader-Willi Syndrome. Lancet 1: 1285–1286.PubMedCrossRefGoogle Scholar
  7. Cassidy SB (1984). Prader-Willi Syndrome. Curr Probl in Ped 14: 1–55.Google Scholar
  8. Cassidy SB (1987). Recurrence risk in Prader-Willi Syndrome (Letter). Am J Med Genet 28: 59–60, 1987.Google Scholar
  9. Donion TA (1988). Similar molecular deletions on chromosome 15qll. 2 are encountered in both the Prader-Willi and Angelman Syndromes. Hum Genet 80: 322–328.CrossRefGoogle Scholar
  10. Greenswag LR (1987). Adults with Prader-Willi Syndrome: A survey of 232 cases. Dev Med Child Neurol 29: 145–152.PubMedCrossRefGoogle Scholar
  11. Holm VA (1981). The diagnosis of Prader-Willi Syndrome. In Holm VA, Sulzbacher S, and Pipes PL (eds), Prader-Willi Syndrome. Baltimore, University Park Press, ch. 3.Google Scholar
  12. Holm VA and Pipes PL (1976). Food and children with Prader-Willi Syndrome. Am J Dis Child 130: 1063–1067.PubMedGoogle Scholar
  13. Knoll J, Nicholls R, Magenis R, Graham J Jr (1989). Angelman and Prader-Willi Syndrome share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32: 285–290.PubMedCrossRefGoogle Scholar
  14. Knoll JH, Glatt KA, Nicholls RD, Malcolm S, and Lalande M (1991). Chromosome 15 uniparental disomy is not frequent in Angelman Syndrome. Am J Hum Genet 48: 16–21.PubMedGoogle Scholar
  15. Ledbetter, D.H. and Cassidy, S.B. (1900). Etiology of Prader- Willi Syndrome. In Caldwell ML and Taylor RL (eds.), Prader-Willi Syndrome: Selected Research and Management Issues. Springer-Verlag, New York, p. 13–28.Google Scholar
  16. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenen SB, and Crawford JD (1981). Deletions of chromosome 15 as a cause of the Prader-Willi Syndrome. N. Engl J Med 304: 325–329.PubMedCrossRefGoogle Scholar
  17. Lubinsky M, Zellweger H, Greenswag L, Larson G, Hansmann I, and Ledbetter D (1987). Familial Prader-Willi Syndrome with normal chromosomes. Am J Med Genet 28: 37–43.PubMedCrossRefGoogle Scholar
  18. Magenis RE, Brown MG, Lacy DA, Budden S, and LaFranchi S (1987). Is Angelman Syndrome an alternate result of del(15)(qllql3)? Am J Med Genet 28: 829–838.PubMedCrossRefGoogle Scholar
  19. Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM, Wurster-Hill D, Wharton R, Latt SA (1989). Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi Syndrome. Am J Med genet 33: 66–77.PubMedCrossRefGoogle Scholar
  20. Nicholls RD, Knoll JHM Butler MG, Karam S, Lalande M (1989b). Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi Syndrome. Nature 342:281–285.Google Scholar
  21. Prader A, Labhart A, and Willi H (1956). Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus and Oligophrenie nach Myotonicartigem Zustand in Neugeborenalter. Schweiz Med Wochenschr 86: 1260–1261.Google Scholar
  22. Uehling D (1980). Cryptorchidism in the Prader-Willi Syndrome. J Urol. 124: 103–104.PubMedGoogle Scholar
  23. Whitman BY and Accardo P (1987). Emotional symptoms in Prader-Willi Syndrome adolescents. Am J Med Genet 28: 897–905.PubMedCrossRefGoogle Scholar
  24. Zellweger H (1981). Diagnosis and therapy in the first phase of Prader-Willi Syndrome. In Holm VA, Sulzbacher S, and Pipes PL (eds), Prader-Willi Syndrome. Baltimore, University Park Press, ch. 5.Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1992

Authors and Affiliations

  • Suzanne B. Cassidy
    • 1
  1. 1.Section of Genetics/Dysmorphology, Department of Pediatrics and Steele Memorial Children’s Research CenterUniversity of Arizona College of MedicineTucsonUSA

Personalised recommendations