{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T05:55:19Z","timestamp":1778565319831,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2010,10,14]],"date-time":"2010-10-14T00:00:00Z","timestamp":1287014400000},"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":[[2010,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sub\u2010epithelial defects (i.e., discontinuities) of the superior <jats:italic>orbicularis oris<\/jats:italic> (OO) muscle appear to be a part of the phenotypic spectrum of cleft lip with or without cleft palate (CL\u2009\u00b1\u2009P). Analysis of the OO phenotype as a clinical tool is hypothesized to improve familial recurrence risk estimates of CL\u2009\u00b1\u2009P. Study subjects (n\u2009=\u20093,912) were drawn from 835 families. Occurrences of CL\u2009\u00b1\u2009P were compared in families with and without members with an OO defect. Empiric recurrence risks were calculated for CL\u2009\u00b1\u2009P and OO defects among first\u2010degree relatives (FDRs). Risks were compared to published data and\/or to other outcomes of this study using chi\u2010square or Fisher's exact tests. In our cohort, the occurrence of CL\u2009\u00b1\u2009P was significantly increased in families with OO defects versus those without (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.01, OR\u2009=\u20091.74). The total FDR recurrence of isolated OO defects in this cohort is 16.4%; the sibling recurrence is 17.2%. The chance for one or more FDRs of a CL\u2009\u00b1\u2009P proband to have an OO defect is 11.4%; or 14.7% for a sibling. Conversely, the chance for any FDR of an individual with an OO defect to have CL\u2009\u00b1\u2009P is 7.3%; or for a sibling, 3.3%; similar to published recurrence risk estimates of nonsyndromic (NS) CL\u2009\u00b1\u2009P. This study supports sub\u2010epithelial OO muscle defects as being part of the CL\u2009\u00b1\u2009P spectrum and suggests a modification to recurrence risk estimates of CL\u2009\u00b1\u2009P by utilizing OO defect information. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33695","type":"journal-article","created":{"date-parts":[[2010,10,14]],"date-time":"2010-10-14T16:13:31Z","timestamp":1287072811000},"page":"2697-2702","source":"Crossref","is-referenced-by-count":23,"title":["Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate"],"prefix":"10.1002","volume":"152A","author":[{"given":"Cherise M.","family":"Klotz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca S.","family":"DeSensi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robin E.","family":"Grubs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard J.","family":"Costello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary L.","family":"Marazita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,10,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwi132"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMe048164"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.PRS.0000164494.45986.91"},{"key":"e_1_2_7_5_1","first-page":"240","article-title":"The minimal cleft lip revisited: Clinical and anatomic correlations","volume":"16","author":"Heckler FR","year":"1979","journal-title":"Cleft Palate J"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470529"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<155::AID-AJMG13>3.0.CO;2-V"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.14219\/jada.archive.2009.0022"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960202)61:4<371::AID-AJMG12>3.0.CO;2-P"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31760"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(2000)037<0441:ABMIPW>2.0.CO;2"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200201000-00001"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1597\/07-115.1"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.39458.563611.AE"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199904083401401"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1597\/04-122R1.1"}],"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.33695","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33695","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T00:15:07Z","timestamp":1697588107000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33695"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,14]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["10.1002\/ajmg.a.33695"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33695","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,14]]}}}