Skip to main content
SpringerLink
Log in

Prader–Willi and Other Syndromes Associated with Obesity and Mental Retardation

  • Published:
Behavior Genetics Aims and scope Submit manuscript

Abstract

Constitutional obesity and mental retardation cooccur in several multiple congenital anomaly syndromes, including Prader–Willi syndrome, Bardet–Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson–Forssman–Lehmann syndrome as well as some rarer disorders. Although hypothalamic–pituitary axis abnormalities are thought to be a possible causative mechanism in some of these disorders, current knowledge is insufficient to explain the pathophysiologic mechanism of obesity in most multiple congenital anomaly/mental retardation syndromes. The chromosomal location of many of these syndromes is known, and studies are ongoing to identify the causative genes. Further delineation of the functions of the underlying genes will likely be instructive regarding mechanisms of appetite, satiety, and obesity in the general population. This review details current knowledge of the clinical and molecular genetic findings of multiple congenital anomaly/mental retardation syndromes associated with intrinsic obesity in an effort to delineate causative mechanisms and genetic abnormalities contributing to obesity.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

REFERENCES

  • Albright, F., Burnett, C. H., Smith, P. H., and Parson, W. (1942). Pseudohypoparathyroidism an example of “Sea-bright-Bantam syndrome”: Report of three cases. Endocrinology 30:922–932.

    Google Scholar 

  • Albright, F., Forbes, A. P., and Henneman, P. H. (1952). Pseudopseudohypoparathyroidism. Trans. Assoc. Am. Phys. 65:337–350.

    Google Scholar 

  • Allison, D. B., Packer-Munter, W., Pietrobelli, A., Alfonso, V. C., and Faith, M. S. (1997). Obesity and developmental disabilities: Pathogenesis and treatment. J. Dev. Phys. Disabil. (in press).

  • Alton, D. J., and McDonald, M. B. (1973). Urographic findings in the Bardet-Biedl syndrome. Pediatr. Radiol. 109:659–663.

    Google Scholar 

  • Ammann, F. (1970). Investigations cliniques et genetiques sur le syndrome de Bardet-Biedl en Suisse. J. Genet. Hum. 18(Suppl.):1–310.

    Google Scholar 

  • Angulo, M., Castro-Magana, M., Mazur, B., Janas, J. A., Vitollo, P. M., and Sarrantonio, M. (1996). Growth hormone secretion and effects of growth hormone therapy on growth velocity and weight gain in children with Prader-Willi syndrome. J. Pediatr. Endocrinol. Metab. 9:393–400.

    Google Scholar 

  • Ardinger, H. H., Hanson, J. W., and Zellweger, H. U. (1984). Borjeson-Forssman-Lehmann syndrome: Further delineation in five cases. Am. J. Med. Genet. 19:653–664.

    Google Scholar 

  • ASHG/ACMG Test and Technology Transfer Committee (1996). Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG test and technology transfer committee. Am. J. Hum. Genet. 58:1085–1088.

    Google Scholar 

  • Bardet, G. (1920). Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire. Thesis, Paris, No. 479 (pub.). Note: contribution a l'etude des formes cliniques de l'obesite hypophysaire.

  • Bek, T., and Rosenberg, T. (1994). Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome. Br. J. Ophthalmol. 79:76–80.

    Google Scholar 

  • Biedl, A. (1922). Ein geschwisterpaar mit adioposo-genitaler dystrophy. Dtsch. Med. Wschr. 48:1630.

    Google Scholar 

  • Biemond, A. (1934). Het syndroom van Laurence-Biedl en een aanverwant, nieuw syndroom. Nederl. T. Geneesk. 78:1801–1814.

    Google Scholar 

  • Borjeson, M., Forssman, H., and Lehmann, O. (1962). An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med. Scand. 171:13–21.

    Google Scholar 

  • Bunker, C. H., Berson, E. L., Bromley, M. C., Hayes, R. P., and Roderick, T. H. (1984). Prevalence of retinitis pigmentosa in Maine. Am. J. Ophthalmol. 97:357–365.

    Google Scholar 

  • Butler, M. G. (1990). Prader-Willi syndrome: Current understanding of cause and diagnosis. Am. J. Med. Genet. 35:319–322.

    Google Scholar 

  • Buyse, M. (1979). Laurence-Moon-Biedl syndrome. In Bergsma, D. (ed.), Birth Defects Compendium, 2nd. ed., The National Foundation-March of Dimes, Alan R. Liss, New York, pp. 578–579.

    Google Scholar 

  • Camera, G., Marugo, M., and Cohen, M. M. (1993). Another postnatal-onset obesity syndrome. Am. J. Med. Genet. 47:820–822.

    Google Scholar 

  • Carey, J. C., and Hall, B. D. (1978). Confirmation of the Cohen syndrome. J. Pediatr. 93:239–244.

    Google Scholar 

  • Carmi, R., Elbedour, K., Stone, E. M., and Sheffield, V. C. (1995). Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. Am. J. Med. Genet. 59:199–203.

    Google Scholar 

  • Cassidy, S. B. (1984). Prader-Willi syndrome. Curr. Probl. Pediatr. 14:1–55.

    Google Scholar 

  • Cassidy, S. B. (1995). Uniparental disomy and genomic imprinting as causes of human genetic disease. Environ. Mol. Mutag. 25(Suppl. 26):13–20.

    Google Scholar 

  • Cassidy, S. B., Devi, A., and Mukaida, C. (1994). Aging in Prader-Willi syndrome: 22 Patients over age 30 years. Proc. Greenwood. Genet. Center 13:102–103.

    Google Scholar 

  • Campbell, R., Gosden, C. M., and Bonthron, D. T. (1994). Parental origin of transcription from the human GNASI gene. J. Med. Genet. 31:607–614.

    Google Scholar 

  • Chase, L. R., Melson, G. L., and Aurbach, G. D. (1969). Pseudohypoparathyroidism: Defective excretion of 3′-5′-AMP in response to parathyroid hormone. J. Clin. Invest. 48:1832–1844.

    Google Scholar 

  • Christian, S. L., Robinson, W. P., Huang, B., et al. (1995). Characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am. J. Hum. Genet. 57:40–48.

    Google Scholar 

  • Chudley, A. E., Lowry, R. B., and Hoar, D. I. (1988). Mental retardation, distinct facial changes, short stature, obesity and hypogonadism: A new X-linked mental retardation syndrome. Am. J. Med. Genet. 31:741–751.

    Google Scholar 

  • Cohen, M. M., Hall, B. D., Smith, D. W., Graham, C. B., and Lampert, K. J. (1973). A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J. Pediatr. 83:280–284.

    Google Scholar 

  • Croft, J. B., and Swift, M. (1990). Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. Am. J. Med. Genet. 36:37–42.

    Google Scholar 

  • Croft, J. B., Morrell, D., Chase, C. L., and Swift, M. (1995). Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. Am. J. Med. Genet. 55:12–15.

    Google Scholar 

  • Davies, S. J., and Hughes, H. E. (1993). Imprinting in Albright hereditary osteodistrophy. J. Med. Genet. 30:101–103.

    Google Scholar 

  • De Vries, B. B. A., Fryns, J. P., Butler, M. G., Canziani, F., Wesby-van Swaay, E., O van Hemel, J., Oostra, B. A., Halley, D. J., and Niermeijer, M. F. (1993). Clinical and molecular studies in fragile X patients with a Prader-Willi like phenotype. J. Med. Genet. 30:761–766.

    Google Scholar 

  • Dittrich, B., Buiting, K., Korn, B., et al. (1996). Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nature Genet. 14:163–170.

    Google Scholar 

  • Drezner, M., and Haussler, M. R. (1979). Normocalcemic pseudohypoparathyroidism. Am. J. Med. 66:503–508.

    Google Scholar 

  • Driscoll, D. J. (1994). Genomic imprinting in humans. In Friedman, T. (ed.) Molecular Genetic Medicine, Academic Press, New York, Vol. 4, pp. 37–77.

    Google Scholar 

  • Dykens, E., and Cassidy, S. B. (1995). Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome. Am. J. Med. Genet. (Neuropsych. Genet.) 60:546–549.

    Google Scholar 

  • Dykens, E., and Cassidy, S. B. (1996). Prader-Willi syndrome: Genetic, behavioral and treatment issues. Child. Adol. Psychiatr. Clin. North Am. 5:913–927.

    Google Scholar 

  • Elbedour, K., Zucker, N., Zalastein, E., Barki, Y., and Carmi, Y. (1994). Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients. Am. J. Med. Genet. 52:164–169.

    Google Scholar 

  • Farag, T. I., and Teebi, A. S. (1989). Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin. Genet. 36:463–465.

    Google Scholar 

  • Farfel, Z., and Friedman, E. (1986). Mental deficiency in pseudohypoparathyroidism type 1 is associated with Ns-protein deficiency. Ann. Intern. Med. 105:197–199.

    Google Scholar 

  • Fitch, N. (1982). Albright's hereditary osteodistrophy: A review. Am. J. Med. Genet. 11:11–29.

    Google Scholar 

  • Frazel, J. (1992). New X-linked syndrome of Mental retardation, gynecomastia and obesity is linked to DXS255. Am. J. Med. Genet. 44:854.

    Google Scholar 

  • Friedman, E., and Sack, J. (1982). The Cohen syndrome: Report of five new cases and a review of the literature. J. Craniofac. Genet. Dev. Biol. 2:193–200.

    Google Scholar 

  • Fulton, A. B., Hansen, R. M., and Glynn, R. J. (1993). Natural course of visual functions in the Bardet-Biedl syndrome. Arch. Ophthalmol. 111:1500–1506.

    Google Scholar 

  • Glenn, C. C., Saitoh, S., Jong, M. T. C., et al. (1996). Gene structure, DNA methylation and imprinted expression of the human SNRPN gene. Am. J. Hum. Genet. 58:335–346.

    Google Scholar 

  • Grebe, H. (1953). Contribution au diagnostic differential du syndrome de Bardet-Biedl. J. Genet. Hum. 2:127–144.

    Google Scholar 

  • Green, J. S., Parfrey, P. S., Harnett, J. D., Farid, N. R., Cramer, B. C., Johnson, G., Health, O., McManamon, P. J., O'Leary, E., and Pryse-Phillips, W. (1989). The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N. Engl. J. Med. 321:1002–1009.

    Google Scholar 

  • Harnett, J. D., Green, J. S., Cramer, B. S., Johnson, G., Chafe, L., McManamon, P., Farid, N. R., Pryse-Phillips, W., and Parfrey, P. S. (1988). The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N. Engl. J. Med. 319:615–618.

    Google Scholar 

  • Hertz, G., Cataletto, M., Feinsilver, S. H., and Angulo, M. (1995). Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: The role of obesity. Am. J. Med. Genet. 56:188–190.

    Google Scholar 

  • Holland, A. J., Treasure, J., Coskeran, P., and Dallow, J. (1993). Measurement of excessive appetite and metabolic changes in Prader-Willi syndrome. Int. J. Obesity 17:526–532.

    Google Scholar 

  • Holland, A. J., Tresure, J., Coskeran, P., and Dallow, J. (1995). Characteristics of the eating disorder in Prader-Willi syndrome: Implications for treatment. J. Intell. Disabil. Res. 39:373–381.

    Google Scholar 

  • Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., and Greenberg, F. (1993). Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 91:398–402.

    Google Scholar 

  • Hurley, R. M., Dery, P., Nogrady, N. B., and Drummond, K. N. (1975). The renal lesions of the Laurence-Moon-Biedl syndrome. J. Pediatr. 87:206–209.

    Google Scholar 

  • Hutchison, H., and Hanson, J. W. (1981). Borjeson-Forssman-Lenhmann syndrome. March of Dimes, 14th Annual Birth Defects Conference, San Diego, CA, June 14–19.

  • Kaartinen, J. M., Kaar, M. L., and Ohisala, J. J. (1994). Defective stimulation of adipocyte adenylate cyclase, blunted lipolysis, and obesity in pseudobypoparathyroidism la. Pediatr. Res. 38:594–597.

    Google Scholar 

  • Kishino, T., Lalande, M., and Wagstaff, J. (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet. 15:70–73.

    Google Scholar 

  • Knoll, J. H. M., Nicholls, R. D., Magenis, E., Graham, J. M., Jr., Lalande, M., and Latt, S. A. (1989). Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am. J. Med. Genet. 32:285–290.

    Google Scholar 

  • Kwitek-Black, A. E., Carrni, R., Duyk, G. M., Buetow, K. H., Elbedour, K., Parvari, R., Yandava, C. N., Stone, E. M., and Sheffield, W. C. (1993). Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genet. 5:392–396.

    Google Scholar 

  • Laurence, J. Z., and Moon, R. C. (1866). Four cases of retinitis pigmentosa occurring in the same family and accompanied by general imperfection of development. Ophthalmol. Rev. 2:32–41.

    Google Scholar 

  • Lee, S.-T., Nicholls, R. D., Budney, S., Laxova, R., Musarella, M., and Spritz, R. A. (1994). Mutations of the P gene in type II oculocutaneous albinism, Prader-Willi syndrome plus albinism, and “autosomal recessive albinism.” N. Engl. J. Med. 330:529–534.

    Google Scholar 

  • Leppert, M., Baird, L., Anderson, K. L., Otterud, B., Lupski, J. R., and Lewis, R. A. (1994). Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nature Genet. 7:108–112.

    Google Scholar 

  • Mathews, K. D., Ardinger, H. H., Nishimura, D. Y., Buetow, K. H., Murray, J. C., and Bartley, J. A. (1989). Linkage localization of Borjeson-Forssman-Lehmann syndrome. Am. J. Med. Genet. 34:470–474.

    Google Scholar 

  • Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R.-J., Jiang, Y.-H., Benton, C. S., Rommens, J. M., and Beaudet, A. L. (1997). De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet. 15:74–777.

    Google Scholar 

  • Miric, A., Vechio, J. D., and Levine, M. A. (1993). Heterogenous mutations in the gene encoding the α subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J. Clin. Endocrinol. Metab. 76:1560–1568.

    Google Scholar 

  • Moretti-Ferreira, D., Koiffmann, C. P., Listik, M., Setian, N., and Wajntal, A. (1993). Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: Delineation of a newly recognized obesity syndrome. Am. J. Med. Genet. 46:555–558.

    Google Scholar 

  • Mutirangura, A., Jayakumar, A., Sutcliffe, J. S., et al. (1993). A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN gene. Genomics 18:546–552.

    Google Scholar 

  • Nicholls, R. D. (1994a). Imprinting mechanisms and genes involved in Prader-Willi and Angelman syndromes. Semin. Dev. Biol. 5:311–322.

    Google Scholar 

  • Nicholls, R. D. (1994b). New insights reveal complex mechanisms involved in genomic imprinting. Am. J. Hum. Genet. 54:733–740.

    Google Scholar 

  • Nicholls, R. D. (1997). A possible role for untranslated imprinted genes in opening chromatin structure (submitted for publication).

  • Nicholls, R. D., Knoll, J. H. M., Butler, M. G., Karam, S., and Lalande, M. (1989). Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342:281–285.

    Google Scholar 

  • Norio, R. (1994). Cohen syndrome is neither uncommon nor new. Am. J. Med. Genet. 53:202.

    Google Scholar 

  • Norio, R., Raitta, C., and Lindahl, E. (1984). Further delincation of the Cohen syndrome; Report on chorioretinal dystrophy, leukopenia and consanguinity. Clin. Genet. 25:1–14.

    Google Scholar 

  • North, C., Patton, M. A., Baraitser, M., and Winter, R. M. (1985). The clinical features of the Cohen syndrome: further case reports. J. Med. Genet. 22:131–134.

    Google Scholar 

  • Pagnan, N. A. B., and Gollop, T. R. (1988). Prader-Willi habitus, osteopenia, and camptodactyly (Urban-Rogers-Meyer syndrome): A probable second report. Am. J. Med. Genet. 31:787–792.

    Google Scholar 

  • Phelan, M. C., Rogers, C., Clarkson, K. B., Bowyer, F. B., Levine, M. A., Estabrooks, L. L., Severson, M. C., and Dobyns, W. B. (1995). Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals. Am. J. Med. Genet. 58:1–7.

    Google Scholar 

  • Poznanski, A. K., Werder, E. A., and Giedion, A. (1977). The pattern of shortening of the bones of the hands in PHP and PPHP, a comparison with brachydactyly E, Turner syndrome and acrodysostosis. Radiology 123:707–718.

    Google Scholar 

  • Prader, A., Labhart, A., and Willi, H. (1956). Ein syndrom von adipositas, kleinwuchs, kryptochismus und oligophrenie nach myotoniertgem zustand im neugeborenalter. Schweiz. Med. Wochenschr. 86:1260–1261.

    Google Scholar 

  • Reed, D. R., Ding, Y., Xu, W., Carter, C., and Price, R. A. (1995). Human obesity does not segregate with the chromosomal regions of Prader-Willi, Bardet-Biedl, Cohen, Borjeson or Wilson-Turner syndromes. Int. J. Obesity 19:599–603.

    Google Scholar 

  • Rinchik, E. M., Bultman, S. J., Horsthemke, B., et al. (1993) A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72–76.

    Google Scholar 

  • Ringel, M. D., Schwindinger, W. F., and Levine, M. A. (1996). Clinical implications of genetic defects in G proteins: The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine 75:171–184.

    Google Scholar 

  • Robinson, L. K., Jones, K. L., Culler, E., Nyhan, W. L., Sakati, N., and Jones, K. L. (1983). The Borjeson Forssman-Lehmann syndrome. Am. J. Med. Genet. 15:475–468.

    Google Scholar 

  • Sack, J., and Friedman, E. (1980). Cardiac involvement in the Cohen syndrome: A case report. Clin. Genet. 17:317–319.

    Google Scholar 

  • Sack, J., and Friedman, E. (1986). The Cohen syndrome in Israel. Israel J. Med. Sci. 22:766–770.

    Google Scholar 

  • Saitoh, S., Kubota, T., Ohta, T., et al. (1992). Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABA receptor b3-subunit gene. Lancet 339:366–367.

    Google Scholar 

  • Saitoh, S., Buiting, K., Rogan, P. K., et al. (1996). Minimal definition of the imprinting center and fixation of a chromosome 15q11–q13 epigenotype by imprinting mutations. Proc. Natl. Acad. Sci. USA 93:7811–7815.

    Google Scholar 

  • Saitoh, S., Cassidy, S. B., Conroy, J. M., et al. (1997). Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am. J. Med. Genet. 68:195–206.

    Google Scholar 

  • Sapienza, C. (1990). Parental imprinting of genes. Sci. Am. 263:52–60.

    Google Scholar 

  • Schachat, A. P., and Maumenee, I. H. (1982). Bardet-Biedl syndrome and related disorders. Arch. Ophthalmol. 100:285–288.

    Google Scholar 

  • Schoeller, D. A., Levitsky, L. L., Bandini, L. G., Dietz, W. W., and Walczak, A. (1988). Energy expenditure and body composition in Prader-Willi syndrome. Metabolism 37:115–120.

    Google Scholar 

  • Schuster, V. (1994). Paternal and maternal transmission of pseudoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: No evidence of genomic imprinting. J. Med. Genet. 31:84–86.

    Google Scholar 

  • Shapira, H., Mauallem, M., Shapira, M. S., Weisman, Y., and Farfel, Z. (1996). Pseudohypoparathyroidism type la: Two new heterozygous frameshift mutations in exons 5 and 10 of the Gsa gene. Hum. Genet. 97:73–75.

    Google Scholar 

  • Sheffield, V. C., Carmi, R., Kwitek-Black, E., Rokhlina, T., Nishimura, D., Duyk, G. M., Elbedour, K., Sunden, S. L., and Stone, E. M. (1994). Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum. Mol. Genet. 3:1331–1335.

    Google Scholar 

  • Sinha, T. K., Thajchayapong, P., Queener, S. F., Allen, D. O., and Bell, N. H. (1976). On the lipolytic action of parathyroid hormone in man. Metabolism 25:251–260.

    Google Scholar 

  • Spiegel, A. M. (1990). Albright's hereditary osteodystrophy and defective G proteins. N. Engl. J. Med. 322:1461–1462.

    Google Scholar 

  • Steinbach, H. L., Rudhe, U., Johnson, M., and Young, D. A. (1965). Evolution of skeletal lesions in pseudohypoparathyroidism. Radiology 85:670–676.

    Google Scholar 

  • Stoler, J. M., Herrin, J. T., and Holmes, L. B. (1995). Genital abnormalities in females with Bardet-Biedl syndrome. Am. J. Med. Genet. 55:276–278.

    Google Scholar 

  • Tahvanainen, E., Norio, R., Karila, E., Ranta, S., Weissenbach, J., Sistonen, P., and de la Chapelle, A. (1994). Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nature Genet. 7:201–204.

    Google Scholar 

  • Toledo, S. P. A., Medeiros-Neto, G. A., Knobel, M., and Mattar, E. (1977). Evaluation of the hypothalamic-pituitary-gonadal function in the Bardet-Biedl syndrome. Metabolism 26:1277–1291.

    Google Scholar 

  • Turner, G., Gedeon, A., Mulley, J., Sutherland, G., Rae, J., Power, K., and Arthur, L. (1989). Borjeson-Forssman-Lehmann syndrome: Clinical manifestations and gene localization to Xq26–27. Am. J. Med. Genet. 34:463–469.

    Google Scholar 

  • Urban, M. D., Rogers, J. G., and Meyer, W. I. (1979). Familial syndrome of mental retardation, short stature, contractures of the hands, and genital abnormalities. J. Pediatr. 94:52–55.

    Google Scholar 

  • Vasquez, S. B., Hurst, D. L., and Sotos, J. F. (1979). X-linked hypogonadism, gynecomastia, mental retardation, short stature and obesity—A new syndrome. J. Pediatr. 94:56–60.

    Google Scholar 

  • Williams, C. A., Angelman, H., Clayton-Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J. H. M., Magenis, R. E., Schinzel, A., Wagstaff, J., Whidden, E. M., and Zori, R. T. (1995). Angelman syndrome: Consensus for diagnostic criteria. Am. J. Med. Genet. 56:237–238.

    Google Scholar 

  • Wilson, L. C., and Trembath, R. C. (1994). Albright's hereditary osteodystrophy. J. Med. Genet. 31:779–784.

    Google Scholar 

  • Wilson, L. C., Leverton, K., Oude Luttikhuis, M. E. M., Oley, C. A., Flint, J., Wolstenholme, J., Duckett, D. P., Barrow, M. A., Leonard, J. V., Read, A. P., and Trembach, R. C. (1995). Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localized ton 2q37. Am. J. Hum. Genet. 56:400–407.

    Google Scholar 

  • Wilson, M., Mulley, J., Gedeon, A., Robinson, H., and Turner, G. (1991). New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. Am. J. Med. Genet. 40:406–413.

    Google Scholar 

  • Zipf, W. B., and Bernston, G. G. (1987). Characteristics of abnormal food-intake patterns in children with Prader-Willi syndrome and study of effects of naloxone. Am. J. Clin. Nutr. 46:277–281.

    Google Scholar 

  • Zipf, W. B., O'Dorioso, T. M., Cataland, S., and Dixon, K. (1983). Pancreatic polypeptide responses to protein meal challenges in obese but otherwise normal children and obese children with Prader-Willi syndrome. J. Clin. Endocrinol. Metab. 57:1074–1080.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio

    M. Gunay-Aygun, S. B. Cassidy & R. D. Nicholls

Authors
  1. M. Gunay-Aygun
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. B. Cassidy
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. R. D. Nicholls
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to S. B. Cassidy.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gunay-Aygun, M., Cassidy, S.B. & Nicholls, R.D. Prader–Willi and Other Syndromes Associated with Obesity and Mental Retardation. Behav Genet 27, 307–324 (1997). https://doi.org/10.1023/A:1025683829856

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1025683829856

Search

Navigation