{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T04:20:31Z","timestamp":1784694031308,"version":"3.55.0"},"reference-count":4,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T00:00:00Z","timestamp":1492041600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Alstr\u00f6m Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the <jats:italic>ALMS1<\/jats:italic> gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy. Concordant findings of nystagmus, vision loss, and developmental delay were noted in both twins. Additional discordant findings included obesity and signs of insulin resistance in one twin. Genetic testing on one sibling confirmed AS. These twins underscore the importance of considering AS in any child presenting with DCM, particularly in infancy, and highlights that, even in monozygotic twins, the clinical course of AS is variable with regard to both the cardiac and non\u2010cardiac manifestations of the disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38200","type":"journal-article","created":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T18:36:21Z","timestamp":1492108581000},"page":"1687-1689","source":"Crossref","is-referenced-by-count":8,"title":["Variable clinical course of identical twin neonates with Alstr\u00f6m syndrome presenting coincidentally with dilated cardiomyopathy"],"prefix":"10.1002","volume":"173","author":[{"given":"Seth A.","family":"Hollander","sequence":"first","affiliation":[{"name":"Department of Pediatrics (Cardiology) Stanford University Medical Center Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norah","family":"Alsaleh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Medical Genetics) Stanford University Medical Center Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maura","family":"Ruzhnikov","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Medical Genetics) Stanford University Medical Center Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen","family":"Jensen","sequence":"additional","affiliation":[{"name":"Solid Organ Transplant Services Lucile Packard Children's Hospital Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N.","family":"Rosenthal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Cardiology) Stanford University Medical Center Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Medical Genetics) Stanford University Medical Center Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Manning","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Medical Genetics) Stanford University Medical Center Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,4,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30688"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-012-0296-6"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201933"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70394-3"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38200","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38200","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T11:09:50Z","timestamp":1696590590000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38200"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,13]]},"references-count":4,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1002\/ajmg.a.38200"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38200","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,13]]}}}