{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:15:19Z","timestamp":1777803319430,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2011,4,4]],"date-time":"2011-04-04T00:00:00Z","timestamp":1301875200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:p>Studies in animal models have established that intra-uterine vitamin A deficiency can hinder hindbrain formation; however, reports of such a phenomenon in humans had not been published until recently, when our group presented the case of an infant diagnosed with pontocerebellar hypoplasia and vitamin A deficiency. We currently report the cases of 3 infants with cerebellar hypoplasia and hypovitaminosis A, whose vitamin A consumption was determined to be adequate, and whose mothers had no such deficiency. We suggest a possible pathophysiology whereby a mutation in the gene coding for cytoplasmic retinol-binding protein II, which is expressed both in the placenta and the yolk sac (during fetal development) and in the absorptive intestinal cells, can cause vitamin A deficiency, forming hindbrain anomalies. Validation of our hypothesis will require further research, including fetal vitamin A measurements and hindbrain examination in cytoplasmic retinol-binding protein II knockout animals.<\/jats:p>","DOI":"10.1177\/0883073811402202","type":"journal-article","created":{"date-parts":[[2011,4,4]],"date-time":"2011-04-04T23:15:36Z","timestamp":1301958936000},"page":"1311-1315","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Three Cases of Cerebellar Hypoplasia and Vitamin A Deficiency"],"prefix":"10.1177","volume":"26","author":[{"given":"Ori","family":"Scott","sequence":"first","affiliation":[{"name":"University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helly R.","family":"Goez","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, of Pediatrics, Stollery Children\u2019s Hospital, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2011,4,4]]},"reference":[{"key":"bibr1-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1038\/340140a0"},{"key":"bibr2-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1016\/S1359-6101(00)00002-2"},{"key":"bibr3-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1046\/j.1460-9568.2003.02765.x"},{"key":"bibr4-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.1.75"},{"key":"bibr5-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(96)00653-3"},{"key":"bibr6-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1007\/BF00417722"},{"key":"bibr7-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1016\/S0892-0362(97)00039-1"},{"key":"bibr8-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2010.09.002"},{"key":"bibr9-0883073811402202","first-page":"389","volume-title":"Pediatric Neurology: Principles & Practice","author":"Gleeson JG","year":"2006","edition":"4"},{"key":"bibr10-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.nutr.22.010402.102745E"},{"key":"bibr11-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32998"},{"key":"bibr12-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1111\/j.1753-4887.1994.tb01383.x"},{"key":"bibr13-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-4959(00)00347-X"},{"key":"bibr14-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)53092-1"},{"key":"bibr15-0883073811402202","first-page":"57","volume":"12","author":"Sapin V","year":"1998","journal-title":"Trophoblast Res"},{"key":"bibr16-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod57.4.751"},{"key":"bibr17-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199702)208:2<199::AID-AJA7>3.0.CO;2-D"},{"key":"bibr18-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M205519200"},{"key":"bibr19-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.00556.2003"},{"key":"bibr20-0883073811402202","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.16.3111"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073811402202","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073811402202","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073811402202","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:49Z","timestamp":1777494949000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073811402202"}},"subtitle":["A Case Report and a Possible Pathophysiology"],"short-title":[],"issued":{"date-parts":[[2011,4,4]]},"references-count":20,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1177\/0883073811402202"],"URL":"https:\/\/doi.org\/10.1177\/0883073811402202","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,4,4]]}}}