{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T08:10:15Z","timestamp":1695629415160},"reference-count":10,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"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":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Toriello\u2013Carey syndrome is rare condition characterized by agenesis of the corpus callosum, the Pierre Robin sequence, and facial anomalies such as telecanthus, short palpebral fissures, and a small nose with anteverted nares [Toriello and Carey, 1988]. In addition, tracheal and laryngeal anomalies are common complications in patients with Toriello\u2013Carey syndrome, and these anomalies can lead to death [Kataoka et al., 2003]. Congenital tracheal stenosis is a life\u2010threatening condition with high mortality. Even if surgery is successful, several serious complications can result in a high risk of mortality. We describe a case of a Japanese boy with Toriello\u2013Carey syndrome who had severe congenital tracheal stenosis, in whom surgical tracheal plasty was avoided because of adequate respiratory care, allowing the patient to be alive at 18 months of age. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35861","type":"journal-article","created":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T10:57:20Z","timestamp":1374231440000},"page":"2291-2293","source":"Crossref","is-referenced-by-count":3,"title":["A case of Toriello\u2013Carey syndrome with severe congenital tracheal stenosis"],"prefix":"10.1002","volume":"161","author":[{"given":"Noritaka","family":"Yokoo","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hyogo Prefectural Tsukaguchi Hospital Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chieko","family":"Marumo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hyogo Prefectural Tsukaguchi Hospital Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinobu","family":"Nishida","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hyogo Prefectural Tsukaguchi Hospital Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Iio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hyogo Prefectural Tsukaguchi Hospital Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Maeda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hyogo Prefectural Tsukaguchi Hospital Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiko","family":"Nonaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hyogo Prefectural Tsukaguchi Hospital Amagasaki Hyogo 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Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Children Health Izumi Osaka 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