{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T17:14:34Z","timestamp":1782753274642,"version":"3.54.5"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,1,4]],"date-time":"2017-01-04T00:00:00Z","timestamp":1483488000000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cartilage\u2010hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage\u2010hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA\u2010processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.\u201014_3dupGAAGCTGAGGACGTGGT and n.183G\u2009&gt;\u2009T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage\u2010hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered.<\/jats:p>","DOI":"10.1111\/cga.12175","type":"journal-article","created":{"date-parts":[[2016,6,8]],"date-time":"2016-06-08T08:21:31Z","timestamp":1465374091000},"page":"32-34","source":"Crossref","is-referenced-by-count":5,"title":["Cartilage\u2010hair hypoplasia associated with isolated hypoganglionosis: A case report"],"prefix":"10.1111","volume":"57","author":[{"given":"Yoshitomo","family":"Yasui","sequence":"first","affiliation":[{"name":"Department of Pediatric Surgery Kanazawa Medical University  Kahoku Ishikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miyuki","family":"Kohno","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Kanazawa Medical University  Kahoku Ishikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syouichi","family":"Nishida","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Kanazawa Medical University  Kahoku Ishikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsubasa","family":"Shironomae","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Kanazawa Medical University  Kahoku Ishikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miwa","family":"Satomi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Kanazawa Medical University  Kahoku Ishikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuyoshi","family":"Kuwahara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Kanazawa Medical University  Kahoku Ishikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadayoshi","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Kanazawa Medical University  Kahoku Ishikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yo","family":"Niida","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine, Department of Advanced Medicine Kanazawa Medical University  Kahoku Ishikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-010-2693-3"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0015-3"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.113632"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1053\/jpsu.2002.36189"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2006.08.004"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.08.004"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2011.03.020"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00595-015-1114-6"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12175","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12175","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12175","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T19:17:48Z","timestamp":1696274268000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12175"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1111\/cga.12175"],"URL":"https:\/\/doi.org\/10.1111\/cga.12175","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1]]}}}