{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T10:51:03Z","timestamp":1761821463684,"version":"3.44.0"},"reference-count":18,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a patient with a complex phenotype including diagnoses of Ebstein's anomaly and Prader\u2013Willi syndrome (PWS) as well as additional congenital anomalies and genetic variants with potential clinical effects. This is the first reported case of both diagnoses present in the same patient. The diagnosis of Ebstein's anomaly was made on prenatal ultrasound. She presented with neonatal hypotonia, feeding problems, and dysmorphic features, followed by later onset weight gain, leading to a diagnosis of PWS. Further evaluations revealed Blaschkoid hyperpigmentation, laryngeal cleft, and pigmentary retinopathy. Whole exome sequencing determined a likely pathogenic variant in alkaline phosphatase gene and several mitochondrial DNA variants. We discuss the known genetic mechanisms of PWS and compare them to the heterogenous genetic associations of Ebstein's anomaly. The standard of care treatment for PWS is growth hormone therapy, which is associated with right-sided heart failure risks. This case illustrates the need to complete the diagnostic work up in all patients, as well as the necessity of a multidisciplinary approach for optimal outcomes.<\/jats:p>","DOI":"10.1055\/s-0042-1757449","type":"journal-article","created":{"date-parts":[[2022,10,10]],"date-time":"2022-10-10T19:42:58Z","timestamp":1665430978000},"page":"315-319","source":"Crossref","is-referenced-by-count":1,"title":["Novel Case of Prader\u2013Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management"],"prefix":"10.53391","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0440-6249","authenticated-orcid":false,"given":"Donald","family":"Mattia","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Phoenix Children's Hospital, Phoenix, Arizona, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Lindblade","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Phoenix Children's Hospital, Phoenix, Arizona, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Oatman","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Phoenix Children's Hospital, Phoenix, Arizona, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Supraja","family":"Prakash","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theresa","family":"Grebe","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2022,10,10]]},"reference":[{"issue":"02","key":"ref1","doi-asserted-by":"crossref","first-page":"e544","DOI":"10.1542\/peds.2012-1103","article-title":"Change in prevalence of congenital defects in children with Prader-Willi syndrome","volume":"131","author":"M Torrado","year":"2013","journal-title":"Pediatrics"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1038\/gim.0b013e31822bead0","article-title":"Prader-Willi syndrome","volume":"14","author":"S B Cassidy","year":"2012","journal-title":"Genet Med"},{"issue":"04","key":"ref3","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1017\/S1047951116001025","article-title":"The changing epidemiology of Ebstein's anomaly and its relationship with maternal mental health conditions: a European registry-based study","volume":"27","author":"B 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in fetuses with Ebstein anomaly or tricuspid valve dysplasia in the current era: a multicenter study","volume":"132","author":"L R Freud","year":"2015","journal-title":"Circulation"},{"issue":"04","key":"ref14","doi-asserted-by":"crossref","first-page":"176","DOI":"10.6065\/apem.2018.23.4.176","article-title":"Growth hormone therapy in patients with Noonan syndrome","volume":"23","author":"G H Seo","year":"2018","journal-title":"Ann Pediatr Endocrinol Metab"},{"issue":"03","key":"ref15","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1111\/jpc.12109","article-title":"Are sleep studies helpful in children with Prader-Willi syndrome prior to commencement of growth hormone therapy?","volume":"49","author":"M Vandeleur","year":"2013","journal-title":"J Paediatr Child Health"},{"issue":"02","key":"ref16","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1159\/000506943","article-title":"Sleep-disordered breathing in children with Prader-Willi syndrome in relation to growth 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