{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:43:38Z","timestamp":1790516618654,"version":"4.1.0"},"reference-count":13,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"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":["Pediatric Allergy, Immunology, and Pulmonology"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the\n                      <jats:italic toggle=\"yes\">SMAD4<\/jats:italic>\n                      gene. Although recognizing Myhre syndrome in early childhood is challenging, it is important to manage airway stenosis in patients with Myhre syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation:<\/jats:title>\n                    <jats:p>\n                      We report the case of a 2-month-old boy who initially presented with severe multilevel airway stenosis, dysmorphic face, and multiple abnormalities. Lung fibrosis and mild aortic valve stenosis were additionally observed on follow-up examinations. A heterozygous missense variant, c.1499T&gt;C (\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/p.Ile500Thr\">p.Ile500Thr<\/jats:ext-link>\n                      ), in\n                      <jats:italic toggle=\"yes\">SMAD4<\/jats:italic>\n                      was identified through exome sequencing. Tracheostomy was performed, and the patient has maintained stable respiration through a customized tracheostomy tube with a home ventilator.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Patients who have dysmorphic face, airway stenosis, and cardiovascular anomalies that do not fit the diagnosis of common syndromes should be evaluated for rare diseases, including Myhre syndrome. Since respiratory complications can be life threatening, early diagnosis and suitable intervention are necessary.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/ped.2021.0029","type":"journal-article","created":{"date-parts":[[2021,6,18]],"date-time":"2021-06-18T14:41:19Z","timestamp":1624027279000},"page":"83-87","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome"],"prefix":"10.1177","volume":"34","author":[{"given":"Min Jin","family":"Jeon","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min Jung","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Hye","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Soo","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jisook","family":"Yim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea."},{"name":"Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myungshin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea."},{"name":"Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seong Keun","family":"Kwon","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University College of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soyoung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Min","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea."},{"name":"Rare Disease Center, Seoul National University Hospital, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea."},{"name":"Rare Disease Center, Seoul National University Hospital, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong In","family":"Suh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,6,16]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01798.x"},{"key":"e_1_3_3_3_2","unstructured":"Starr LJ Lindor NM Lin AE. Myhre syndrome. In: Adam MP Ardinger HH Pagon RA et al. eds. GeneReviews(\u00ae). Seattle WA 1993. Available at: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK425723\/ (accessed June8 2021)."},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12969-020-00466-1"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000504829"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-016-2761-3"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35374"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjoto.2015.04.005"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(03)00126-X"},{"key":"e_1_3_3_10_2","doi-asserted-by":"crossref","first-page":"e553","DOI":"10.1016\/j.ejmg.2011.07.001","article-title":"Clinical features and respiratory complications in Myhre syndrome","volume":"54","author":"McGowan R","year":"2011","unstructured":"McGowan R, , Gulati R, , McHenry P, et al. Clinical features and respiratory complications in Myhre syndrome. Eur J Med Genet, 2011; 54:e553\u2013e559.","journal-title":"Eur J Med Genet"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37273"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.288"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/921365"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2273.1985.tb01164.x"}],"container-title":["Pediatric Allergy, Immunology, and Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/ped.2021.0029","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/ped.2021.0029","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/ped.2021.0029","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T23:15:16Z","timestamp":1777677316000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.1089\/ped.2021.0029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1089\/ped.2021.0029"],"URL":"https:\/\/doi.org\/10.1089\/ped.2021.0029","relation":{},"ISSN":["2151-321X","2151-3228"],"issn-type":[{"value":"2151-321X","type":"print"},{"value":"2151-3228","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6]]}}}