{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:23:16Z","timestamp":1781079796857,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,17]],"date-time":"2013-05-17T00:00:00Z","timestamp":1368748800000},"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":[[2013,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Loeys\u2013Dietz syndrome is a recently recognized connective tissue disorder characterized by severe craniofacial and skeletal abnormalities as well as arterial tortuosity with aggressive aneurysm formation. Marfan syndrome, a classic connective tissue disorder, is known to be associated with a risk of obstructive sleep apnea, but sleep\u2010related breathing disorders have not been previously documented in Loeys\u2013Dietz syndrome. The propositus had the prototypic features of Loeys\u2013Dietz syndrome with a de novo mutation in <jats:italic>TGFBR2<\/jats:italic>. He developed severe obstructive sleep apnea during his infancy. Continuous positive airway pressure was introduced at age 7 years and provided significant improvement in his nocturnal apnea and sleep apnea\u2010related symptoms, such as enuresis. Marfan syndrome is known to be associated with a high risk of sleep apnea because of its characteristic craniofacial and connective tissue abnormalities. Similarly, the severe craniofacial abnormalities in Loeys\u2013Dietz syndrome may predispose patients to severe obstructive sleep apnea, even at a very young age. Despite the severity of obstructive sleep apnea in the propositus, the administration of continuous positive airway pressure was highly effective in alleviating his symptoms. In summary, severe obstructive sleep apnea was successfully treated using continuous positive airway pressure in a patient with Loeys\u2013Dietz syndrome. Careful evaluation and aggressive intervention for the alleviation of obstructive sleep apnea is warranted in Loeys\u2013Dietz syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35953","type":"journal-article","created":{"date-parts":[[2013,5,17]],"date-time":"2013-05-17T22:24:43Z","timestamp":1368829483000},"page":"1733-1736","source":"Crossref","is-referenced-by-count":9,"title":["Severe obstructive sleep apnea in loeys\u2013dietz syndrome successfully treated using continuous positive airway pressure"],"prefix":"10.1002","volume":"161","author":[{"given":"Toshiki","family":"Takenouchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideyuki","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Keio University School of Medicine Tokyo 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