{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T05:03:05Z","timestamp":1772773385722,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T00:00:00Z","timestamp":1416960000000},"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":[[2015,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Schimke Immuno\u2010osseous Dysplasia (SIOD) is a rare genetic disorder with multiple systemic manifestations. Pulmonary manifestations have been described but not well characterized. They are believed to be secondary to decreased elasticity, and include emphysema, pulmonary hypertension and bronchiectasis. We describe a 24\u2010year\u2010old female patient with SIOD with tracheobronchial anomalies not reported before, including tracheomalacia and a tracheal bronchus with Epstein\u2010Barr virus (EBV) related leiomyoma causing endobronchial obstruction. Such anomalies, in addition to the difficult upper airway associated with SIOD present specific challenges during management. This case reports documents tracheobronchial abnormalities that have not been described before in SIOD. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36858","type":"journal-article","created":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T18:20:45Z","timestamp":1417026045000},"page":"434-437","source":"Crossref","is-referenced-by-count":2,"title":["Tracheobronchial anomalies in a patient with Schimke immuno\u2010osseous dysplasia (SIOD)"],"prefix":"10.1002","volume":"167","author":[{"given":"Abdullah","family":"Mobeireek","sequence":"first","affiliation":[{"name":"Department of Medicine King Faisal Hospital &amp; Research Centre Riyadh Saudia Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarfraz","family":"Saleemi","sequence":"additional","affiliation":[{"name":"Department of Medicine King Faisal Hospital &amp; Research Centre Riyadh Saudia Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Khalid","sequence":"additional","affiliation":[{"name":"Department of Medicine King Faisal Hospital &amp; Research Centre Riyadh Saudia Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faiqa","family":"Imtiaz","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Hospital &amp; Research Centre Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eid A.","family":"Almutairy","sequence":"additional","affiliation":[{"name":"Department of Medicine King Faisal Hospital &amp; Research Centre Riyadh Saudia Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,11,26]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"457","article-title":"Schimke immuno\u2010osseous dysplasia","volume":"28","author":"Basiratnia M","year":"2007","journal-title":"Saudi Med J"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050001"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng821"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20432"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.044313"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/LBR.0b013e318193bc71"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513815.2012.701265"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00000891"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.922"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30691"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-70"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.048330"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.4061\/2011\/561548"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0383-x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-4975(03)01500-5"},{"key":"e_1_2_6_17_1","first-page":"10","article-title":"Anesthetic management of Schimke syndrome","author":"Y\u0131ld\u0131r\u0131m G\u00fc\u00e7l\u00fc","year":"2014","journal-title":"J Anesth"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1161233"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1831509"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36858","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36858","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36858","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T08:35:58Z","timestamp":1696581358000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36858"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,26]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1002\/ajmg.a.36858"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36858","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,26]]}}}