{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T08:13:51Z","timestamp":1697703231904},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,1,9]],"date-time":"2009-01-09T00:00:00Z","timestamp":1231459200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4\u2010month\u2010old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene <jats:italic>IFT80<\/jats:italic>, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy. Pediatr Pulmonol. 2009; 44:198\u2013201. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ppul.20960","type":"journal-article","created":{"date-parts":[[2009,1,9]],"date-time":"2009-01-09T20:56:15Z","timestamp":1231534575000},"page":"198-201","source":"Crossref","is-referenced-by-count":6,"title":["Ciliopathy spectrum expanded? 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