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Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in <jats:italic>TP63<\/jats:italic> (c.727C\u2009&gt;\u2009T, p.(Arg243Trp). He also has partial cutaneous syndactyly of the third and fourth fingers of the right hand, and bilateral lacrimal duct stenosis\/aplasia. A later maxillofacial review identified a palpable submucousal cleft and his scalp hair is blond and slightly sparse. Choanal atresia and rectal stenosis are recognized features of ectrodactyly\u2010ectodermal dysplasia\u2010clefting syndrome, but we believe this is the first report of a case presenting with these features in the absence of the cardinal features.<\/jats:p>","DOI":"10.1002\/ajmg.a.61628","type":"journal-article","created":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T06:56:16Z","timestamp":1590994576000},"page":"1939-1943","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Ectrodactyly\u2010ectodermal dysplasia\u2010clefting syndrome presenting with bilateral choanal atresia and rectal stenosis"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5534-9635","authenticated-orcid":false,"given":"Alexandra J.","family":"Childs","sequence":"first","affiliation":[{"name":"Department of Paediatrics Royal Devon and Exeter NHS Foundation Trust  Exeter UK"},{"name":"University of Exeter  Exeter UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David C.","family":"Mabin","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Royal Devon and Exeter NHS Foundation Trust  Exeter UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter D.","family":"Turnpenny","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Royal Devon &amp; Exeter NHS Foundation Trust  Exeter UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,31]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.65"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3109\/23320885.2015.1086273"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34328"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.9.586"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09496.x"},{"issue":"2","key":"e_1_2_10_8_1","first-page":"127","article-title":"Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome","volume":"6","author":"De Smet L.","year":"1995","journal-title":"Genetic Counseling"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513815.2015.1095261"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35885"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34356"},{"key":"e_1_2_10_12_1","first-page":"531210","article-title":"Variation across 141,456 human exomes and genomes reveals the spectrum of loss\u2010of\u2010function intolerance across human protein\u2010coding genes","author":"Karczewski K. 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