{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T17:12:21Z","timestamp":1770916341923,"version":"3.50.1"},"reference-count":8,"publisher":"Necmettin Erbakan University Press","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cat eye syndrome (CES) is a rare genetic defect, characterized by iris colobomas, preauricular skin tags, and anal malformations. Affecting 1 in 150,000 people, this defect is caused by duplication or triplication of the proximal long (q) arm of chromosome 22. Congenital heart disease is associated with CES. One of the most common heart defects in patients with CES is total anomalous pulmonary venous return (TAPVR). In this article, we reported patients with a rare association of concomitant TAPVR and aortic arch obstruction: one with interrupted aortic arch and the other with coarctation of the aorta with an aberrant right subclavian artery.<\/jats:p>","DOI":"10.1055\/s-0039-1701020","type":"journal-article","created":{"date-parts":[[2020,1,20]],"date-time":"2020-01-20T18:59:14Z","timestamp":1579546754000},"page":"035-038","source":"Crossref","is-referenced-by-count":9,"title":["An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome"],"prefix":"10.53391","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4165-6463","authenticated-orcid":false,"given":"Jason L.","family":"Williams","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4950-5854","authenticated-orcid":false,"given":"Marie T.","family":"McDonald","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryce A.","family":"Seifert","sequence":"additional","affiliation":[{"name":"Department of Pathology, Duke University Medical Center, Durham, North Carolina, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen L.","family":"Deak","sequence":"additional","affiliation":[{"name":"Department of Pathology, Duke University Medical Center, Durham, North Carolina, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine W.","family":"Rehder","sequence":"additional","affiliation":[{"name":"Department of Pathology, Duke University Medical Center, Durham, North Carolina, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Campbell","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,1,20]]},"reference":[{"issue":"03","key":"ref1","first-page":"273","article-title":"Phenotypic variability of the cat eye syndrome. Case report and review of the literature","volume":"12","author":"P R Rosias","year":"2001","journal-title":"Genet Couns"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"bcr2014203923","DOI":"10.1136\/bcr-2014-203923","article-title":"Cat eye syndrome","volume":"2014","author":"D Sharma","year":"2014","journal-title":"BMJ Case Rep"},{"issue":"04","key":"ref3","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.pedneo.2014.10.009","article-title":"Type B interrupted aortic arch and hydrocephalus associated with mosaicism of a 1.37\u2009Mb amplified cat eye syndrome critical region","volume":"56","author":"M C Tsai","year":"2015","journal-title":"Pediatr Neonatol"},{"issue":"04","key":"ref4","first-page":"462","article-title":"Clinical characteristics of a sample of patients with cat eye syndrome","volume":"56","author":"R F Rosa","year":"2010","journal-title":"Rev Assoc Med Bras (1992)"},{"issue":"05","key":"ref5","first-page":"e29","article-title":"Interrupted aortic arch type B in A patient with cat eye syndrome","volume":"92","author":"S I Belangero","year":"2009","journal-title":"Arq Bras Cardiol"},{"key":"ref6","first-page":"51","volume-title":"Structural measurements and adjustment for growth","year":"2009"},{"issue":"01","key":"ref7","first-page":"16","article-title":"Congenital cardiac disease and the \u201ccat eye\u201d syndrome","volume":"126","author":"R M Freedom","year":"1973","journal-title":"Am J Dis Child"},{"issue":"01","key":"ref8","first-page":"23","article-title":"Phenotypic variability of Cat-Eye syndrome","volume":"12","author":"M J Berends","year":"2001","journal-title":"Genet Couns"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1701020.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:51Z","timestamp":1758138351000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1701020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,20]]},"references-count":8,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2021,2,2]]},"published-print":{"date-parts":[[2021,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1701020","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,20]]}}}