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. 1994 Jan;70(1):58–63. doi: 10.1136/adc.70.1.58

The Prader-Willi syndrome.

M D Donaldson 1, C E Chu 1, A Cooke 1, A Wilson 1, S A Greene 1, J B Stephenson 1
PMCID: PMC1029686  PMID: 8110011

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aughton D. J., Cassidy S. B. Physical features of Prader-Willi syndrome in neonates. Am J Dis Child. 1990 Nov;144(11):1251–1254. doi: 10.1001/archpedi.1990.02150350083032. [DOI] [PubMed] [Google Scholar]
  2. Bistrian B. R., Blackburn G. L., Stanbury J. B. Metabolic aspects of a protein-sparing modified fast in the dietary management of Prader-Willi obesity. N Engl J Med. 1977 Apr 7;296(14):774–779. doi: 10.1056/NEJM197704072961402. [DOI] [PubMed] [Google Scholar]
  3. Butler M. G., Jenkins B. B., Orth D. N. Plasma immunoreactive beta-melanocyte stimulating hormone (lipotropin) levels in individuals with Prader-Labhart-Willi syndrome. Am J Med Genet. 1987 Dec;28(4):839–844. doi: 10.1002/ajmg.1320280408. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Butler M. G., Meaney F. J. An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet. 1987 Feb;26(2):445–455. doi: 10.1002/ajmg.1320260224. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Butler M. G., Meaney F. J. Standards for selected anthropometric measurements in Prader-Willi syndrome. Pediatrics. 1991 Oct;88(4):853–860. [PMC free article] [PubMed] [Google Scholar]
  6. Butler M. G. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet. 1990 Mar;35(3):319–332. doi: 10.1002/ajmg.1320350306. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Cassidy S. B., Gainey A. J., Butler M. G. Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q. Am J Hum Genet. 1989 Jun;44(6):806–810. [PMC free article] [PubMed] [Google Scholar]
  8. Cassidy S. B. Recurrence risk in Prader-Willi syndrome. Am J Med Genet. 1987 Sep;28(1):59–60. doi: 10.1002/ajmg.1320280109. [DOI] [PubMed] [Google Scholar]
  9. Clarke D. J., Waters J., CORBETT J. A. Adults with Prader-Willi syndrome: abnormalities of sleep and behaviour. J R Soc Med. 1989 Jan;82(1):21–24. doi: 10.1177/014107688908200108. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Coplin S. S., Hine J., Gormican A. Out-patient dietary management in the Prader-Willi syndrome. J Am Diet Assoc. 1976 Apr;68(4):330–334. [PubMed] [Google Scholar]
  11. Costeff H., Holm V. A., Ruvalcaba R., Shaver J. Growth hormone secretion in Prader-Willi syndrome. Acta Paediatr Scand. 1990 Nov;79(11):1059–1062. doi: 10.1111/j.1651-2227.1990.tb11383.x. [DOI] [PubMed] [Google Scholar]
  12. Dittrich B., Robinson W. P., Knoblauch H., Buiting K., Schmidt K., Gillessen-Kaesbach G., Horsthemke B. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet. 1992 Nov;90(3):313–315. doi: 10.1007/BF00220089. [DOI] [PubMed] [Google Scholar]
  13. Donlon T. A., Lalande M., Wyman A., Bruns G., Latt S. A. Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc Natl Acad Sci U S A. 1986 Jun;83(12):4408–4412. doi: 10.1073/pnas.83.12.4408. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Dunn H. G. The Prader-Labhart-Willi syndrome: review of the literature and report of nine cases. Acta Paediatr Scand. 1968;(Suppl):1+–1+. doi: 10.1111/j.1651-2227.1968.tb06038.x. [DOI] [PubMed] [Google Scholar]
  15. Fernandez F., Berry C., Mutton D. Prader-Willi syndrome in siblings, due to unbalanced translocation between chromosomes 15 and 22. Arch Dis Child. 1987 Aug;62(8):841–843. doi: 10.1136/adc.62.8.841. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Greenswag L. R. Adults with Prader-Willi syndrome: a survey of 232 cases. Dev Med Child Neurol. 1987 Apr;29(2):145–152. doi: 10.1111/j.1469-8749.1987.tb02129.x. [DOI] [PubMed] [Google Scholar]
  17. Hall J. G. Genomic imprinting: review and relevance to human diseases. Am J Hum Genet. 1990 May;46(5):857–873. [PMC free article] [PubMed] [Google Scholar]
  18. Hamabe J., Fukushima Y., Harada N., Abe K., Matsuo N., Nagai T., Yoshioka A., Tonoki H., Tsukino R., Niikawa N. Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients. Am J Med Genet. 1991 Oct 1;41(1):54–63. doi: 10.1002/ajmg.1320410116. [DOI] [PubMed] [Google Scholar]
  19. Hamabe J., Kuroki Y., Imaizumi K., Sugimoto T., Fukushima Y., Yamaguchi A., Izumikawa Y., Niikawa N. DNA deletion and its parental origin in Angelman syndrome patients. Am J Med Genet. 1991 Oct 1;41(1):64–68. doi: 10.1002/ajmg.1320410117. [DOI] [PubMed] [Google Scholar]
  20. Hawkey C. J., Smithies A. The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature. J Med Genet. 1976 Apr;13(2):152–157. doi: 10.1136/jmg.13.2.152. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Hoffman C. J., Aultman D., Pipes P. A nutrition survey of and recommendations for individuals with Prader-Willi syndrome who live in group homes. J Am Diet Assoc. 1992 Jul;92(7):823-30, 833. [PubMed] [Google Scholar]
  22. Holm V. A., Cassidy S. B., Butler M. G., Hanchett J. M., Greenswag L. R., Whitman B. Y., Greenberg F. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993 Feb;91(2):398–402. [PMC free article] [PubMed] [Google Scholar]
  23. Holm V. A., Pipes P. L. Food and children with Prader-Willi syndrome. Am J Dis Child. 1976 Oct;130(10):1063–1067. doi: 10.1001/archpedi.1976.02120110025003. [DOI] [PubMed] [Google Scholar]
  24. Jeffcoate W. J., Laurance B. M., Edwards C. R., Besser G. M. Endocrine function in the Prader-Willi syndrome. Clin Endocrinol (Oxf) 1980 Jan;12(1):81–89. doi: 10.1111/j.1365-2265.1980.tb03136.x. [DOI] [PubMed] [Google Scholar]
  25. Kleppe S. A., Katayama K. M., Shipley K. G., Foushee D. R. The speech and language characteristics of children with Prader-Willi syndrome. J Speech Hear Disord. 1990 May;55(2):300–309. doi: 10.1044/jshd.5502.300. [DOI] [PubMed] [Google Scholar]
  26. Knoll J. H., Nicholls R. D., Magenis R. E., Graham J. M., Jr, Lalande M., Latt S. A. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet. 1989 Feb;32(2):285–290. doi: 10.1002/ajmg.1320320235. [DOI] [PubMed] [Google Scholar]
  27. Knoll J. H., Sinnett D., Wagstaff J., Glatt K., Wilcox A. S., Whiting P. M., Wingrove P., Sikela J. M., Lalande M. FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Hum Mol Genet. 1993 Feb;2(2):183–189. doi: 10.1093/hmg/2.2.183. [DOI] [PubMed] [Google Scholar]
  28. Kousholt A. M., Beck-Nielsen H., Lund H. T. A reduced number of insulin receptors in patients with Prader-Willi syndrome. Acta Endocrinol (Copenh) 1983 Nov;104(3):345–351. doi: 10.1530/acta.0.1040345. [DOI] [PubMed] [Google Scholar]
  29. Kuwano A., Mutirangura A., Dittrich B., Buiting K., Horsthemke B., Saitoh S., Niikawa N., Ledbetter S. A., Greenberg F., Chinault A. C. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet. 1992 Sep;1(6):417–425. doi: 10.1093/hmg/1.6.417. [DOI] [PubMed] [Google Scholar]
  30. Laurance B. M., Brito A., Wilkinson J. Prader-Willi Syndrome after age 15 years. Arch Dis Child. 1981 Mar;56(3):181–186. doi: 10.1136/adc.56.3.181. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Ledbetter D. H., Riccardi V. M., Airhart S. D., Strobel R. J., Keenan B. S., Crawford J. D. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med. 1981 Feb 5;304(6):325–329. doi: 10.1056/NEJM198102053040604. [DOI] [PubMed] [Google Scholar]
  32. Lee P. D., Wilson D. M., Rountree L., Hintz R. L., Rosenfeld R. G. Linear growth response to exogenous growth hormone in Prader-Willi syndrome. Am J Med Genet. 1987 Dec;28(4):865–871. doi: 10.1002/ajmg.1320280411. [DOI] [PubMed] [Google Scholar]
  33. Lubinsky M., Zellweger H., Greenswag L., Larson G., Hansmann I., Ledbetter D. Familial Prader-Willi syndrome with apparently normal chromosomes. Am J Med Genet. 1987 Sep;28(1):37–43. doi: 10.1002/ajmg.1320280106. [DOI] [PubMed] [Google Scholar]
  34. Margules D. L., Inturrisi C. E. Beta-endorphin immunoreactivity in the plasma of patients with the Prader-Labhart-Willi syndrome and their normal siblings. Experientia. 1983 Jul 15;39(7):766–767. doi: 10.1007/BF01990316. [DOI] [PubMed] [Google Scholar]
  35. Mutirangura A., Greenberg F., Butler M. G., Malcolm S., Nicholls R. D., Chakravarti A., Ledbetter D. H. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet. 1993 Feb;2(2):143–151. doi: 10.1093/hmg/2.2.143. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Ozçelik T., Leff S., Robinson W., Donlon T., Lalande M., Sanjines E., Schinzel A., Francke U. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet. 1992 Dec;2(4):265–269. doi: 10.1038/ng1292-265. [DOI] [PubMed] [Google Scholar]
  37. Parra A., Cervantes C., Schultz R. B. Immunoreactive insulin and growth hormone responses in patients with Prader-Willi syndrome. J Pediatr. 1973 Oct;83(4):587–593. doi: 10.1016/s0022-3476(73)80219-7. [DOI] [PubMed] [Google Scholar]
  38. Pipes P. L., Holm V. A. Weight control of children with Prader-Willi syndrome. J Am Diet Assoc. 1973 May;62(5):520–524. [PubMed] [Google Scholar]
  39. Schoeller D. A., Levitsky L. L., Bandini L. G., Dietz W. W., Walczak A. Energy expenditure and body composition in Prader-Willi syndrome. Metabolism. 1988 Feb;37(2):115–120. doi: 10.1016/s0026-0495(98)90003-8. [DOI] [PubMed] [Google Scholar]
  40. Selikowitz M., Sunman J., Pendergast A., Wright S. Fenfluramine in Prader-Willi syndrome: a double blind, placebo controlled trial. Arch Dis Child. 1990 Jan;65(1):112–114. doi: 10.1136/adc.65.1.112. [DOI] [PMC free article] [PubMed] [Google Scholar]
  41. Soper R. T., Mason E. E., Printen K. J., Zellweger H. Gastric bypass for morbid obesity in children and adolescents. J Pediatr Surg. 1975 Feb;10(1):51–58. doi: 10.1016/s0022-3468(75)80008-x. [DOI] [PubMed] [Google Scholar]
  42. Stephenson J. B. Neonatal presentation of Prader-Willi syndrome. Am J Dis Child. 1992 Feb;146(2):151–152. doi: 10.1001/archpedi.1992.02160140017010. [DOI] [PubMed] [Google Scholar]
  43. Stephenson J. B. Prader-Willi syndrome: neonatal presentation and later development. Dev Med Child Neurol. 1980 Dec;22(6):792–795. doi: 10.1111/j.1469-8749.1980.tb03747.x. [DOI] [PubMed] [Google Scholar]
  44. Strakowski S. M., Butler M. G. Paternal hydrocarbon exposure in Prader-Willi syndrome. Lancet. 1987 Dec 19;2(8573):1458–1458. doi: 10.1016/s0140-6736(87)91152-4. [DOI] [PMC free article] [PubMed] [Google Scholar]
  45. Tolis G., Lewis W., Verdy M., Friesen H. G., Solomon S., Pagalis G., Pavlatos F., Fessas P., Rochefort J. G. Anterior pituitary function in the Prader-Labhart-Willi (PLW) syndrome. J Clin Endocrinol Metab. 1974 Dec;39(6):1061–1066. doi: 10.1210/jcem-39-6-1061. [DOI] [PubMed] [Google Scholar]
  46. Van Vliet G., Bosson D., Rummens E., Robyn C., Wolter R. Evidence against growth hormone-releasing factor deficiency in children with idiopathic obesity. Acta Endocrinol Suppl (Copenh) 1986;279:403–410. doi: 10.1530/acta.0.112s403. [DOI] [PubMed] [Google Scholar]
  47. Vanelli M., Bernasconi S., Caronna N., Virdis R., Terzi C., Giovannelli G. Precocious puberty in a male with Prader-Labhart-Willi syndrome. Helv Paediatr Acta. 1984 Oct;39(4):373–377. [PubMed] [Google Scholar]
  48. Wagstaff J., Knoll J. H., Glatt K. A., Shugart Y. Y., Sommer A., Lalande M. Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nat Genet. 1992 Jul;1(4):291–294. doi: 10.1038/ng0792-291. [DOI] [PubMed] [Google Scholar]
  49. Whitman B. Y., Accardo P. Emotional symptoms in Prader-Willi syndrome adolescents. Am J Med Genet. 1987 Dec;28(4):897–905. doi: 10.1002/ajmg.1320280415. [DOI] [PubMed] [Google Scholar]
  50. Zellweger H. The Prader-Willi syndrome. JAMA. 1984 Apr 13;251(14):1835–1835. [PubMed] [Google Scholar]
  51. Zlotkin S. H., Fettes I. M., Stallings V. A. The effects of naltrexone, an oral beta-endorphin antagonist, in children with the Prader-Willi syndrome. J Clin Endocrinol Metab. 1986 Nov;63(5):1229–1232. doi: 10.1210/jcem-63-5-1229. [DOI] [PubMed] [Google Scholar]

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