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The purpose of this paper was to describe the symptoms and imaging of a case of isolated agnathia and to conduct a comprehensive literature review of reported patients with isolated agnathia. Case reports of isolated agnathia are very rare, with most infants as stillborn. We report a child's management of isolated agnathia with microstomia and tongue aplasia. A literature review was performed with focus on diagnosis, airway, and feeding management of isolated agnathia. Polyhydramnios was a common pregnancy complication reported in 25 out of the 39 patients in the case study. Five infants were stillborn, while 23 died within the neonatal period. Of the deceased infants within the neonatal period, 19 died within minutes to hours while four died within days to weeks. There are nine patients with agnathia that survived past infancy. The results of this study suggest that isolated agnathia is a rare malformation which requires a multi\u2010disciplinary approach for airway and feeding management.<\/jats:p>","DOI":"10.1002\/ajmg.a.61784","type":"journal-article","created":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T06:01:40Z","timestamp":1597212100000},"page":"2409-2416","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A case of rare isolated agnathia and literature review"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0851-4044","authenticated-orcid":false,"given":"Nicole L.","family":"Alexander","sequence":"first","affiliation":[{"name":"Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Binoy","family":"Chandy","sequence":"additional","affiliation":[{"name":"Division of Pediatric Otolaryngology Texas Children's Hospital  Houston TX USA"},{"name":"Department of Otolaryngology Head and Neck Surgery Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geran","family":"Barton","sequence":"additional","affiliation":[{"name":"Department of Surgery Texas Children's Hospital  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1575-0571","authenticated-orcid":false,"given":"Yi\u2010Chun Carol","family":"Liu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Otolaryngology Texas Children's Hospital  Houston TX USA"},{"name":"Department of Otolaryngology Head and Neck Surgery Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.7863\/ultra.32.8.1522"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9592.2004.01284.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1973.00780020130014"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1985.00800040096015"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569_1990_027_0415_aaamac_2.3.co_2"},{"key":"e_1_2_9_7_1","doi-asserted-by":"crossref","DOI":"10.1007\/978-1-60327-161-5","volume-title":"Atlas of Genetic Diagnosis and Counseling","author":"Chen H.","year":"2006"},{"issue":"12","key":"e_1_2_9_8_1","first-page":"736","article-title":"Otocephaly: Report of a case with ultrasound findings","volume":"81","author":"Dao A.","year":"1988","journal-title":"Journal of the Tennessee Medical Association"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35879"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1213\/XAA.0000000000000340"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001127)95:3<269::AID-AJMG14>3.0.CO;2-P"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.1005"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513810601123417"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000002150"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2011.11.033"},{"issue":"4","key":"e_1_2_9_16_1","first-page":"377","article-title":"Agnathia\u2013otocephaly: Prenatal diagnosis by two\u2010 and three\u2010dimensional ultrasound and magnetic resonance imaging. 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