{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:27:23Z","timestamp":1777523243424,"version":"3.51.4"},"reference-count":7,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2019,10,13]],"date-time":"2019-10-13T00:00:00Z","timestamp":1570924800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:p>\n                    We present a family with a previously undescribed abnormality of the palate and oropharynx which involved the absence of the uvula and the anterior pillar of the fauces, rudimentary posterior pillar of the fauces, and hypernasality. Eight family members over 4 generations are affected in a pattern consistent with autosomal dominant inheritance. A causal role for the\n                    <jats:italic>FOXF2<\/jats:italic>\n                    gene has been identified and previously reported. We describe the management of the proband, which involved attempting to lengthen the palate and to retroposition the abnormally anteriorly directed velar musculature, along with speech therapy.\n                  <\/jats:p>","DOI":"10.1177\/1055665619880401","type":"journal-article","created":{"date-parts":[[2019,10,13]],"date-time":"2019-10-13T23:47:09Z","timestamp":1571010429000},"page":"514-519","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Familial Absent Uvula With Velopharyngeal Incompetence\u2014A New Syndrome?"],"prefix":"10.1177","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2958-417X","authenticated-orcid":false,"given":"Brian","family":"Sommerlad","sequence":"first","affiliation":[{"name":"North Thames Cleft Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London and St Andrew\u2019s Centre, Broomfield Hospital, Chelmsford, Essex, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rimante","family":"Seselgyte","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Lees","sequence":"additional","affiliation":[{"name":"North Thames Cleft Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London and St Andrew\u2019s Centre, Broomfield Hospital, Chelmsford, Essex, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erwin","family":"Pauws","sequence":"additional","affiliation":[{"name":"Developmental Biology and Cancer, UCL GOS Institute of Child Health, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip","family":"Stanier","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debbie","family":"Sell","sequence":"additional","affiliation":[{"name":"North Thames Cleft Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London and St Andrew\u2019s Centre, Broomfield Hospital, Chelmsford, Essex, United Kingdom"},{"name":"Centre for Outcomes and Experience Research in Children\u2019s Health, Illness and Disability (ORCHID), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,10,13]]},"reference":[{"key":"e_1_3_2_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.69.5.577"},{"key":"e_1_3_2_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2016.05.013"},{"key":"e_1_3_2_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/136828299247595"},{"key":"e_1_3_2_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034519837245"},{"key":"e_1_3_2_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.PRS.0000085599.84458.D2"},{"key":"e_1_3_2_7_1","volume-title":"Comprehensive Cleft Care","author":"Sommerlad BC","year":"2015","unstructured":"Sommerlad BC. Cleft palate repair with minimal hard palate dissection and radical muscle reconstruction. In: Losee J, Kirschner R, eds. Comprehensive Cleft Care. 2nd ed. New York, NY: McGraw-Hill; 2015.","edition":"2"},{"key":"e_1_3_2_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-1606(03)00176-3"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1055665619880401","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1055665619880401","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1055665619880401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:20:18Z","timestamp":1777393218000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1055665619880401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,13]]},"references-count":7,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["10.1177\/1055665619880401"],"URL":"https:\/\/doi.org\/10.1177\/1055665619880401","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,13]]}}}