{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T21:07:19Z","timestamp":1790543239655,"version":"4.1.0"},"reference-count":35,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,2,1]]},"abstract":"<jats:sec><jats:title>OBJECTIVE:<\/jats:title><jats:p>The aim of this study was to assess the prevalence of congenital defects observed in patients with Prader-Willi syndrome (PWS) and to compare this prevalence with that described in the general population. In addition, these findings were correlated with the different etiologic subtypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS:<\/jats:title><jats:p>A total of 180 children with PWS followed for 13 years were included in this study. Diagnosis was confirmed by the methylation test, and genetic subtypes were established by using fluorescence in situ hybridization or multiplex ligation-dependent probe amplification and microsatellite analyses. The prevalence of congenital defects was compared with national and international registries of congenital defects in the general population (Estudio Colaborativo Latinoamericano de Malformaciones Cong\u00e9nitas, European Surveillance of Congenital Anomalies, and the New York Registry).<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS:<\/jats:title><jats:p>Twenty-two percent of the patients presented congenital defects with a risk of 5.4 to 18.7 times higher than that of the general population. The most frequent congenital defects were heart defects, renoureteral malformations, vertebral anomalies, hip dysplasia, clubfoot, and agenesis\/hypoplasia of the corpus callosum. Each of these congenital defects was significantly more frequent in the children with PWS than in the general population. The congenital heart defects were more frequent in girls than in boys with PWS. No significant differences were found when the defects were correlated with the different etiologic subtypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS:<\/jats:title><jats:p>An increased prevalence of congenital defects was found in our PWS patients. This finding suggests the need for further studies in PWS children that allow physicians to detect the congenital defects found in this series and, thus, to anticipate complications, with the ultimate aim of enhancing the management of PWS patients.<\/jats:p><\/jats:sec>","DOI":"10.1542\/peds.2012-1103","type":"journal-article","created":{"date-parts":[[2013,1,8]],"date-time":"2013-01-08T23:12:31Z","timestamp":1357686751000},"page":"e544-e549","source":"Crossref","is-referenced-by-count":24,"title":["Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome"],"prefix":"10.1542","volume":"131","author":[{"given":"M.","family":"Torrado","sequence":"first","affiliation":[{"name":"Departments of Genetics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.E.","family":"Foncuberta","sequence":"additional","affiliation":[{"name":"Departments of Genetics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.F. de Castro","family":"Perez","sequence":"additional","affiliation":[{"name":"Pediatrics, Hospital de Pediatr\u00eda, \u201cProf. Juan P. Garrahan,\u201d Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.P.","family":"Gravina","sequence":"additional","affiliation":[{"name":"Departments of Genetics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.V.","family":"Araoz","sequence":"additional","affiliation":[{"name":"Departments of Genetics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Baialardo","sequence":"additional","affiliation":[{"name":"Departments of Genetics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.P.","family":"Chertkoff","sequence":"additional","affiliation":[{"name":"Departments of Genetics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2013,2,1]]},"reference":[{"key":"2021120903245673500_B1"},{"issue":"2","key":"2021120903245673500_B2","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1542\/peds.91.2.398","article-title":"Prader-Willi syndrome: consensus diagnostic criteria.","volume":"91","author":"Holm","year":"1993","journal-title":"Pediatrics"},{"issue":"5","key":"2021120903245673500_B3","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1111\/j.1399-0004.1982.tb01449.x","article-title":"Prader-Willi syndrome: are there population differences?","volume":"22","author":"Butler","year":"1982","journal-title":"Clin Genet"},{"issue":"1","key":"2021120903245673500_B4","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/ejhg.2008.165","article-title":"Prader-Willi syndrome.","volume":"17","author":"Cassidy","year":"2009","journal-title":"Eur J Hum Genet"},{"issue":"11","key":"2021120903245673500_B5","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1136\/jmg.38.11.792","article-title":"Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region.","volume":"38","author":"Whittington","year":"2001","journal-title":"J Med Genet"},{"issue":"3","key":"2021120903245673500_B6","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1136\/adc.88.3.263","article-title":"Birth prevalence of Prader-Willi syndrome in Australia.","volume":"88","author":"Smith","year":"2003","journal-title":"Arch Dis Child"},{"issue":"3","key":"2021120903245673500_B7","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1038\/sj.ejhg.5201135","article-title":"Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.","volume":"12","author":"Vogels","year":"2004","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"2021120903245673500_B8","first-page":"40","article-title":"Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.","volume":"57","author":"Christian","year":"1995","journal-title":"Am J Hum Genet"},{"issue":"2","key":"2021120903245673500_B9","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1101\/gr.8.2.146","article-title":"Integrated YAC contig map of the Prader-Willi\/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.","volume":"8","author":"Christian","year":"1998","journal-title":"Genome Res"},{"issue":"6","key":"2021120903245673500_B10","first-page":"1219","article-title":"Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.","volume":"49","author":"Robinson","year":"1991","journal-title":"Am J Hum Genet"},{"issue":"6247","key":"2021120903245673500_B11","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1038\/342281a0","article-title":"Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.","volume":"342","author":"Nicholls","year":"1989","journal-title":"Nature"},{"issue":"24","key":"2021120903245673500_B12","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1056\/NEJM199206113262404","article-title":"The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.","volume":"326","author":"Mascari","year":"1992","journal-title":"N Engl J Med"},{"issue":"1","key":"2021120903245673500_B13","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1086\/301935","article-title":"Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.","volume":"63","author":"Buiting","year":"1998","journal-title":"Am J Hum Genet"},{"issue":"5","key":"2021120903245673500_B14","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1002\/ajmg.a.31520","article-title":"Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study.","volume":"143","author":"Torrado","year":"2007","journal-title":"Am J Med Genet A"},{"issue":"2","key":"2021120903245673500_B15","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1002\/ajmg.1320610206","article-title":"PW71 methylation test for Prader-Willi and Angelman syndromes.","volume":"61","author":"Dittrich","year":"1996","journal-title":"Am J Med Genet"},{"issue":"2","key":"2021120903245673500_B16","first-page":"390","article-title":"A combination of five short tandem repeats of chromosome 15 significantly improves the identification of Prader-Willi syndrome etiology in the Argentinean population.","volume":"5","author":"Ar\u00e1oz","year":"2006","journal-title":"Genet Mol Res"},{"issue":"1-6","key":"2021120903245673500_B17","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1159\/000131052","article-title":"Characterization of banding patterns of metaphase-prophase G-banded chromosomes and their use in gene mapping.","volume":"22","author":"Yunis","year":"1978","journal-title":"Cytogenet Cell Genet"},{"issue":"5","key":"2021120903245673500_B18","first-page":"409","article-title":"Births prevalence of 27 selected congenital anomalies in 7 geographic regions of Argentina [in Spanish]","volume":"108","author":"Campa\u00f1a","year":"2010","journal-title":"Arch Argent Pediatr"},{"issue":"6","key":"2021120903245673500_B19","first-page":"6","article-title":"Desarrollo de un registro nacional de anomal\u00edas cong\u00e9nitas en Argentina: Estudio piloto de factibilidad.","volume":"2","author":"Liascovich","year":"2011","journal-title":"Rev Argent Salud P\u00fablica"},{"key":"2021120903245673500_B20","unstructured":"New York State Department of Health. Congenital Malformations Registry: Summary Report. Troy, NY: New York State Department of Health; 2010. Available at: www.health.ny.gov\/diseases\/congenital_malformations\/2006\/docs\/summary_report.pdf. Accessed February 6, 2012"},{"key":"2021120903245673500_B21","unstructured":"EUROCAT. Table \u201cPrevalence 96 Subgroups Last 5 years.\u201d Newtownabbey, Northern Ireland: EUROCAT. Available at: www.eurocat-network.eu\/accessprevalencedata\/prevalencetables. Accessed February 6, 2012"},{"key":"2021120903245673500_B22","unstructured":"EUROCAT. Number of Births 1980-2009. Newtownabbey, Northern Ireland: EUROCAT. Available at: www.eurocat-network.eu\/aboutus\/memberregistries. Accessed February 6, 2012"},{"issue":"5","key":"2021120903245673500_B23","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1055\/s-0030-1254155","article-title":"Prevalence of congenital heart defects in newborns in Germany: Results of the first registration year of the PAN Study (July 2006 to June 2007).","volume":"222","author":"Lindinger","year":"2010","journal-title":"Klin Padiatr"},{"issue":"1","key":"2021120903245673500_B24","first-page":"31","article-title":"Epidemiology and registry of congenital heart disease in Costa Rica [in Spanish]","volume":"30","author":"Benavides-Lara","year":"2011","journal-title":"Rev Panam Salud Publica"},{"issue":"5","key":"2021120903245673500_B25","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1002\/ajmg.a.31508","article-title":"Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome.","volume":"143","author":"Miller","year":"2007","journal-title":"Am J Med Genet A"},{"issue":"1","key":"2021120903245673500_B26","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/ajmg.1320460107","article-title":"Angelman and Prader-Willi syndrome: a magnetic resonance imaging study of differences in cerebral structure.","volume":"46","author":"Leonard","year":"1993","journal-title":"Am J Med Genet"},{"issue":"2","key":"2021120903245673500_B27","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2006-0637","article-title":"Brain developmental abnormalities in Prader-Willi syndrome detected by diffusion tensor imaging.","volume":"118","author":"Yamada","year":"2006","journal-title":"Pediatrics"},{"issue":"4","key":"2021120903245673500_B28","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1212\/WNL.59.4.644","article-title":"Abnormal cortical development shown by 3D MRI in Prader-Willi syndrome.","volume":"59","author":"Yoshii","year":"2002","journal-title":"Neurology"},{"issue":"7","key":"2021120903245673500_B29","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1080\/08035250500527307","article-title":"Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.","volume":"95","author":"Titomanlio","year":"2006","journal-title":"Acta Paediatr"},{"issue":"8","key":"2021120903245673500_B30","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1302\/0301-620X.89B8.19008","article-title":"Congenital talipes equinovarus: a review of current management.","volume":"89","author":"Siapkara","year":"2007","journal-title":"J Bone Joint Surg Br"},{"key":"2021120903245673500_B31","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1097\/00003086-196400330-00010","article-title":"Genetic and environmental factors in the etiology of congenital dislocation of the hip.","volume":"33","author":"Carter","year":"1964","journal-title":"Clin Orthop Relat Res"},{"issue":"4","key":"2021120903245673500_B32","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1097\/BPO.0b013e3181da857d","article-title":"The musculoskeletal manifestations of Prader-Willi syndrome.","volume":"30","author":"Shim","year":"2010","journal-title":"J Pediatr Orthop"},{"key":"2021120903245673500_B33"},{"issue":"2","key":"2021120903245673500_B34","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2007-3487","article-title":"Scoliosis in patients with Prader-Willi Syndrome.","volume":"122","author":"Odent","year":"2008","journal-title":"Pediatrics"},{"issue":"1","key":"2021120903245673500_B35","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1542\/peds.2010-2820","article-title":"Clinical report\u2014health supervision for children with Prader-Willi syndrome.","volume":"127","author":"McCandless","year":"2011","journal-title":"Pediatrics"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/131\/2\/e544\/1089119\/peds_2012-1103.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/131\/2\/e544\/1089119\/peds_2012-1103.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,5]],"date-time":"2022-02-05T14:49:51Z","timestamp":1644072591000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/131\/2\/e544\/31867\/Change-in-Prevalence-of-Congenital-Defects-in"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,1]]},"references-count":35,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2013,2,1]]},"published-print":{"date-parts":[[2013,2,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2012-1103","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,1]]}}}