{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T21:54:11Z","timestamp":1785534851416,"version":"3.56.0"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,3,13]],"date-time":"2021-03-13T00:00:00Z","timestamp":1615593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100011408","name":"University of South Alabama","doi-asserted-by":"publisher","award":["U54 HD06122 and RR019478. UC Irvine\u2019s Institute for Clinical and Translational Science was funded by a grant from the NIH Clinical and Translational Sciences Award program (UL1 TR000153)."],"award-info":[{"award-number":["U54 HD06122 and RR019478. UC Irvine\u2019s Institute for Clinical and Translational Science was funded by a grant from the NIH Clinical and Translational Sciences Award program (UL1 TR000153)."]}],"id":[{"id":"10.13039\/100011408","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Prader\u2010Willi syndrome (PWS) is a complex genetic disorder with three molecular classes but clinical ascertainment is based on distinctive features. The prevalence of dysmorphic features was studied in 355 PWS participants (61% deletion, 36% maternal disomy [UPD], and 3% imprinting defects) from the National Institute of Health PWS Rare Diseases Clinical Research Network. The effect of growth hormone (GH) treatment on growth and dysmorphic features was compared. Among participants, upslanting palpebral fissures were seen in 23%; strabismus in 42%; abnormal dentition in 32%; small hands in 63% and small feet in 70%; hypopigmentation in 30%; striae in 32% and skin picking in 26%. Compared to those with UPD, participants with deletions were found to be heavier (p = 0.002), had smaller head circumference (HC) (p = 0.009), higher incidence of a flat occiput (p = 0.005); low\u2010anterior hairline (p = 0.04); abnormal dentition (p = 0.009); abdominal striae (p = 0.045), nail abnormalities (p = 0.050), and fair\u2010haired (p\u2009&lt;\u20090.001). Participants in both genetic groups receiving GH were taller (p = 0.005), had larger HCs (p = 0.005), and longer hands (p = 0.049). This study suggested that PWS genetic subtypes and GH treatment can influence growth and dysmorphic features that may impact clinical diagnosis of PWS, such as stature, head shape and appearance of the eyes, nose, and genitalia.<\/jats:p>","DOI":"10.1111\/cge.13947","type":"journal-article","created":{"date-parts":[[2021,2,22]],"date-time":"2021-02-22T02:00:58Z","timestamp":1613959258000},"page":"29-39","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Influence of molecular classes and growth hormone treatment on growth and dysmorphology in\n                    <scp>Prader\u2010Willi<\/scp>\n                    syndrome: A multicenter study"],"prefix":"10.1111","volume":"100","author":[{"given":"Ranim","family":"Mahmoud","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of California, Irvine, CA, Children's Hospital of Orange County  Orange California"},{"name":"Department of Pediatrics, Faculty of Medicine Mansoura University  Mansoura Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Leonenko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California, Irvine, CA, Children's Hospital of Orange County  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2911-0524","authenticated-orcid":false,"given":"Merlin G.","family":"Butler","sequence":"additional","affiliation":[{"name":"Departments of Psychiatry &amp; Behavioral Sciences and Pediatrics University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Flodman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California, Irvine, CA, Children's Hospital of Orange County  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"June\u2010Anne","family":"Gold","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California, Irvine, CA, Children's Hospital of Orange County  Orange California"},{"name":"Department of Pediatrics Loma Linda University Medical School  Loma Linda California"},{"name":"Childrens Hospital of Orange County  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Florida, College of Medicine  Gainesville Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Roof","sequence":"additional","affiliation":[{"name":"Vanderbilt Kennedy Center for Research on Human Development Vanderbilt University  Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Dykens","sequence":"additional","affiliation":[{"name":"Vanderbilt Kennedy Center for Research on Human Development Vanderbilt University  Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J.","family":"Driscoll","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Florida, College of Medicine  Gainesville Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1567-4449","authenticated-orcid":false,"given":"Virginia","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California, Irvine, CA, Children's Hospital of Orange County  Orange California"},{"name":"Childrens Hospital of Orange County  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230307"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350306"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.11.917"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-33536-0"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.165"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-015-0312-9"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.2174\/1573396315666190716120925"},{"key":"e_1_2_8_9_1","volume-title":"GeneReviews\u00ae","author":"Driscoll DJ","year":"1993"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000096742"},{"issue":"6","key":"e_1_2_8_11_1","first-page":"785","article-title":"Diagnosis and treatment of GH deficiency in Prader\u2010Willi syndrome","volume":"30","author":"Grugni G","year":"2016","journal-title":"Clin Endocrin Metab"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105301"},{"key":"e_1_2_8_13_1","first-page":"1260","article-title":"Willi 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":"1","key":"e_1_2_8_14_1","first-page":"140","article-title":"Hypopigmentation: a common feature of Prader\u2010Labhart\u2010Willi syndrome","volume":"45","author":"Butler MG","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2962"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2013.01.001"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61293"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38582"},{"issue":"9","key":"e_1_2_8_19_1","first-page":"1","article-title":"Use of World Health Organization and CDC growth charts for children aged 0\u201059 months in the United States","volume":"59","author":"Grummer\u2010Strawn LM","year":"2010","journal-title":"MMWR Recomm Rep"},{"key":"e_1_2_8_20_1","unstructured":"Growth Charts \u2010 2000 CDC Growth Charts \u2010 United States. CDC.Gov 2021 https:\/\/www.cdc.gov\/growthcharts\/cdc_charts.htm."},{"key":"e_1_2_8_21_1","unstructured":"LeonenkoA.Analysis of phenotypic features in a large cohort of individuals with Prader\u2010Willi Syndrome: differences between gender molecular type growth hormone exposure in various age groups. eScholarship University of California 2018."},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<57::AID-AJMG11>3.0.CO;2-U"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61408"},{"key":"e_1_2_8_24_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_8_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210291"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31295"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35429"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00776-014-0651-y"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13947","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13947","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13947","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T16:00:42Z","timestamp":1693411242000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13947"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,13]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1111\/cge.13947"],"URL":"https:\/\/doi.org\/10.1111\/cge.13947","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13947\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13947\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13947\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13947\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13947\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13947\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13947\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13947\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,13]]},"assertion":[{"value":"2020-11-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}