{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T09:37:47Z","timestamp":1778924267041,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,11,29]],"date-time":"2019-11-29T00:00:00Z","timestamp":1574985600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000912","name":"March of Dimes Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000912","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Prader\u2013Willi syndrome (PWS) affects 1\/15,000\u20131\/30,000 live births and is characterized by lack of expression of paternally inherited genes on 15q11.2\u201015q13 caused by paternal deletions, maternal uniparental disomy (UPD), or imprinting defects. Affected individuals have distinct physical features, and growth hormone (GH) deficiency occurs in some individuals with PWS. The aim of this study is to test the hypotheses that (a) individuals with deletions and UPD have different physical and dysmorphic features, (b) individuals treated with GH have different physical and dysmorphic features than those not treated, and (c) GH treatment effects are different for individuals with UPD in comparison to those with deletions. Study participants included 30 individuals with deletions or UPD, who did or did not have GH treatment. Participants\u2019 molecular abnormalities were determined by molecular and cytogenetic analysis. Clinical data were obtained by a single dysmorphologist. Individuals with deletions were found to be heavier (<jats:italic>p<\/jats:italic> = .001), taller (<jats:italic>p<\/jats:italic> = .031), with smaller head circumferences (<jats:italic>p<\/jats:italic> = .042) and were more likely to have fair skin and hair than their family members (<jats:italic>p<\/jats:italic> = .031, .049, respectively) compared to UPD patients. Females with deletions more commonly had hypoplastic labia minora (<jats:italic>p<\/jats:italic> = .009) and clitoris (.030) in comparison to those with UPD. Individuals who received GH in both deletion and UPD groups were taller (<jats:italic>p<\/jats:italic> = .004), had larger hands (<jats:italic>p<\/jats:italic> = .011) and feet (<jats:italic>p<\/jats:italic> = .006) and a trend for a larger head circumference (<jats:italic>p<\/jats:italic> = .103). Interestingly, the GH\u2010treated group also had a lower rate of strabismus (esotropia [<jats:italic>p<\/jats:italic> = .017] and exotropia [<jats:italic>p<\/jats:italic> = .039]). This study showed statistically significant correlations between phenotype and molecular subtypes and also between phenotype and GH treatment.<\/jats:p>","DOI":"10.1002\/ajmg.a.61408","type":"journal-article","created":{"date-parts":[[2019,11,29]],"date-time":"2019-11-29T13:29:56Z","timestamp":1575034196000},"page":"169-175","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Molecular subtype and growth hormone effects on dysmorphology in Prader\u2013Willi syndrome"],"prefix":"10.1002","volume":"182","author":[{"given":"Jeannine","family":"Oldzej","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javeria","family":"Manazir","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"June\u2010Anne","family":"Gold","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California  Irvine California"},{"name":"Division of Biochemical and Clinical Genetics Children's Hospital of Orange County  Orange California"},{"name":"Division of Genetics and Metabolism, Department of Pediatrics Loma Linda University Medical School  Loma Linda California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ranim","family":"Mahmoud","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California  Irvine California"},{"name":"Genetics Unit, Department of Pediatrics, Faculty of Medicine Mansoura University  Mansoura Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn","family":"Osann","sequence":"additional","affiliation":[{"name":"Department of Medicine University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Flodman","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzanne B.","family":"Cassidy","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California  Irvine California"},{"name":"Division of Medical Genetics, Department of Pediatrics University of California  San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1567-4449","authenticated-orcid":false,"given":"Virginia E.","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California  Irvine California"},{"name":"Division of Biochemical and Clinical Genetics Children's Hospital of Orange County  Orange California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,11,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2962"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399405009531"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/65.5.1369"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0495-395"},{"issue":"1","key":"e_1_2_7_6_1","first-page":"140","article-title":"Hypopigmentation: A common feature of Prader\u2010Labhart\u2010Willi syndrome","volume":"45","author":"Butler M. G.","year":"1989","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350306"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.165"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<433::AID-AJMG12>3.0.CO;2-T"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1990.tb11383.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.2147\/DMSO.S141352"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-3888"},{"issue":"3","key":"e_1_2_7_14_1","first-page":"191","article-title":"Does the genetic Causof Prader\u2010Willi syndrome explain the highly variable phenotype?","volume":"11","author":"Dobrescu A. I.","year":"2016","journal-title":"Maedica (Buchar)"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050832"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210291"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<106::AID-AJMG19>3.0.CO;2-Q"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.21037\/tp.2017.09.04"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198102053040604"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00284.x"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1997.tb18372.x"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.2.8.921"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-019-09502-2"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/342281a0"},{"key":"e_1_2_7_25_1","first-page":"1260","article-title":"Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus, und Oligophrnie Nach Myatonieartigem Zustand im Neugerborenenalter","volume":"8","author":"Prader A.","year":"1956","journal-title":"Schweizerische Med Wochenschr"},{"key":"e_1_2_7_26_1","first-page":"1260","article-title":"Ein Syndrom von Adipositas, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand in Neugeborenenamter","volume":"86","author":"Prader A.","year":"1956","journal-title":"Schweiz Med Wochenschr"},{"issue":"10","key":"e_1_2_7_27_1","first-page":"331","article-title":"Genomic imprinting and genetic disorders in man","volume":"5","author":"Reik W.","year":"1989","journal-title":"Trends in Genetics"},{"key":"e_1_2_7_28_1","first-page":"577","article-title":"Secretion of human growth hormone: Physiologic and experimental modification","volume":"12","author":"Roth J.","year":"1963","journal-title":"Metabolism"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.2.e35"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.792"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050901"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61408","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61408","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T17:23:30Z","timestamp":1693329810000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,29]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1002\/ajmg.a.61408"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61408","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,29]]},"assertion":[{"value":"2019-05-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}