{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T01:17:04Z","timestamp":1774574224524,"version":"3.50.1"},"reference-count":10,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,7,23]]},"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:p>Mandibulofacial dysostosis with microcephaly (MFDM) is a rare condition that causes abnormalities of the head and face. Other major extracranial malformations may also be found. The authors present a case of an MFDM in a 35 weeks newborn with antenatal growth restriction. The patient required resuscitation at birth and was diagnosed with oesophageal atresia with tracheoesophageal fistula at day 1. At physical examination he presented multiple congenital malformations including prominent forehead, plagiocephaly, low-set ears, malformed auricles, hypertelorism, downward-slanting eyes, micrognathia, everted lower lip, short neck, wide-spaced nipples and inguinal hernia. Imaging investigation showed dysplasia of the inner ear with agenesis of the vestibular\u2013cochlear nerves and global cerebral atrophy. Analysis of the EFTUD2 gene revealed that the patient was a heterozygous carrier of a pathogenic mutation (c.831_832del[p.Lys277Asnsf*7]), which has not been previously described. This case illustrates the challenges faced in diagnosing and treating MFDM patients.<\/jats:p>","DOI":"10.1136\/bcr-2019-229831","type":"journal-article","created":{"date-parts":[[2019,8,14]],"date-time":"2019-08-14T07:22:47Z","timestamp":1565767367000},"page":"e229831","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":15,"title":["Mandibulofacial dysostosis with microcephaly: a syndrome to remember"],"prefix":"10.1136","volume":"12","author":[{"given":"Joana Brand\u00e3o","family":"Silva","sequence":"first","affiliation":[{"name":"Pediatrics Department, Centro Hospitalar de Vila Nova de Gaia\/Espinho EPE, Vila Nova de Gaia, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0589-0658","authenticated-orcid":false,"given":"Diana","family":"Soares","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Centro Hospitalar de Vila Nova de Gaia\/Espinho EPE, Vila Nova de Gaia, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Le\u00e3o","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Paediatrics Department, Centro Hospitalar S\u00e3o Jo\u00e3o, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Santos","sequence":"additional","affiliation":[{"name":"Infancy and Adolescent Neurosciences Unit, Paediatrics Department, Centro Hospitalar de Vila Nova de Gaia\/Espinho EPE, Vila Nova de Gaia, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,8,13]]},"reference":[{"key":"2025082709354985000_12.8.e229831.1","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1007\/s10897-017-0119-2","article-title":"The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later","volume":"26","author":"Williams","year":"2017","journal-title":"J Genet Couns"},{"key":"2025082709354985000_12.8.e229831.2","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000220603.09661.7e"},{"key":"2025082709354985000_12.8.e229831.3","unstructured":"Lines M , Hartley T , Boycott KM . et al Mandibulofacial Dysostosis with Microcephaly. In: Adam MP , Ardinger HH , Pagon RA , Wallace SE , Bean LJH , Stephens K , Amemiya A , . eds. GeneReviews\u00ae [Internet]. \u00a0Seattle (WA): University of Washington, Seattle, 2014:1993\u20132019."},{"key":"2025082709354985000_12.8.e229831.4","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/humu.22924","article-title":"Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update","volume":"37","author":"Huang","year":"2016","journal-title":"Hum Mutat"},{"key":"2025082709354985000_12.8.e229831.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.023"},{"key":"2025082709354985000_12.8.e229831.6","unstructured":"Bulman DE . \u00a0EFTUD2 gene homepage. In:\u00a0Global Variome shared LOVD [Internet], \u00a02013-2018. [cited 22 january 2019]. https:\/\/databases.lovd.nl\/shared\/genes\/EFTUD2."},{"key":"2025082709354985000_12.8.e229831.7","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12123"},{"key":"2025082709354985000_12.8.e229831.8","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/humu.22517","article-title":"Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients","volume":"35","author":"Lehalle","year":"2014","journal-title":"Hum Mutat"},{"key":"2025082709354985000_12.8.e229831.9","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-56"},{"key":"2025082709354985000_12.8.e229831.10","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/s13039-014-0068-5","article-title":"Determining parental origin of embryo aneuploidy: analysis of genetic error observed in 305 embryos derived from anonymous donor oocyte IVF cycles","volume":"7","author":"Sills","year":"2014","journal-title":"Mol Cytogenet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-229831","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:35:59Z","timestamp":1756312559000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-229831"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2019,8,13]]},"published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1136\/bcr-2019-229831"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-229831","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8]]}}}