{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T03:03:07Z","timestamp":1781578987658,"version":"3.54.5"},"reference-count":13,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,7,22]],"date-time":"2021-07-22T00:00:00Z","timestamp":1626912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K 23 HL 135346"],"award-info":[{"award-number":["K 23 HL 135346"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high\u2010volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.0001). U\u2010shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U\u2010shaped CP. The most common palatal morphology among those who died was an intact palate. U\u2010shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.<\/jats:p>","DOI":"10.1002\/ajmg.a.62430","type":"journal-article","created":{"date-parts":[[2021,7,22]],"date-time":"2021-07-22T11:36:40Z","timestamp":1626953800000},"page":"3694-3700","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1703-1546","authenticated-orcid":false,"given":"Tara L.","family":"Wenger","sequence":"first","affiliation":[{"name":"Division of Genetic Medicine University of Washington School of Medicine  Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Perkins","sequence":"additional","affiliation":[{"name":"Division of Otolaryngology Seattle Children's Hospital  Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Parish\u2010Morris","sequence":"additional","affiliation":[{"name":"Division of Psychiatry Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne V.","family":"Hing","sequence":"additional","affiliation":[{"name":"Division of Craniofacial Medicine Seattle Children's Hospital  Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maida L.","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Pulmonary Medicine Seattle Children's Hospital  Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher M.","family":"Cielo","sequence":"additional","affiliation":[{"name":"Division of Pulmonary Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania 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Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[{"name":"Department of Genetics, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesse A.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery Children's Hospital of Philadelphia  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