{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T15:40:01Z","timestamp":1770997201620,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,1,13]],"date-time":"2014-01-13T00:00:00Z","timestamp":1389571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Congenital dyserythropoietic anemia (CDA) type\u20101 is a rare genetic disorder of ineffective erythropoiesis, which manifests in macrocytic anemia. We report a CDA1 patient who as a newborn presented with macrocytic anemia and persistent pulmonary hypertension of the newborn (PPHN) requiring mechanical ventilation. Post\u2010infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1. Patient is a compound heterozygote for a known maternal\u2010derived missense\u2010mutation (c.1796A\u2009&gt;\u2009G\/p.Asn589Ser) and a novel paternal\u2010derived deletion\u2010mutation (c.1104_1106del\/Phe365del) in <jats:italic>CDAN1<\/jats:italic>. This report highlights the importance of recognizing PPHN as a presenting symptom of CDA1 and expands the repertoire of the accompanying mutations and axial skeletal malformations. Pediatr Blood Cancer 2014; 61:1460\u20131462. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.24945","type":"journal-article","created":{"date-parts":[[2014,1,13]],"date-time":"2014-01-13T09:25:36Z","timestamp":1389605136000},"page":"1460-1462","source":"Crossref","is-referenced-by-count":8,"title":["Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity"],"prefix":"10.1002","volume":"61","author":[{"given":"Ayman A.","family":"El\u2010Sheikh","sequence":"first","affiliation":[{"name":"Pediatric Hematology Oncology University of Iowa Children's Hospital Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hasan","family":"Hashem","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Oncology Case Western University Cleveland Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol","family":"Holman","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Hospital and Clinics Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yatin M.","family":"Vyas","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Oncology University of Iowa Children's Hospital Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,13]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70130-6"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200411000-00011"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1997.2513065.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05757.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05642.x"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/301834"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2013.089490"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-01-0421"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(00)90025-8"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1994.tb03278.x"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.1978.tb02496.x"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072110"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199707000-00002"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70034-4"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2004.00310.x"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1703526"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24945","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.24945","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T02:30:48Z","timestamp":1696473048000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.24945"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,13]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/pbc.24945"],"URL":"https:\/\/doi.org\/10.1002\/pbc.24945","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,13]]}}}