{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T10:25:21Z","timestamp":1789899921821,"version":"4.0.1"},"reference-count":6,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2016,5,24]]},"abstract":"<jats:p>Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is an uncommon cause of microcephaly and intrauterine growth retardation in a newborn. Early identifying features include but are not limited to sloping forehead, micrognathia, sparse hair, including of eyebrows and short limbs. Immediate radiological findings may include partial or complete agenesis of the corpus callosum, interhemispheric cyst and shallow acetabula leading to dislocation. Genetic testing displaying a mutation in RNU4ATAC gene is necessary for definitive diagnosis. Early identification is important as MOPD1 is an autosomal recessive condition and could present in subsequent pregnancies. The purpose of this case is to both identify and describe some common physical findings related to MOPD1. We present a case of MOPD1 in a girl born to non-consanguineous parents that was distinct for subglottic stenosis and laryngeal cleft.<\/jats:p>","DOI":"10.1136\/bcr-2016-215502","type":"journal-article","created":{"date-parts":[[2016,6,16]],"date-time":"2016-06-16T13:18:14Z","timestamp":1466083094000},"page":"bcr2016215502","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Microcephalic osteodysplastic primordial dwarfism type 1"],"prefix":"10.1136","volume":"2016","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9006-1576","authenticated-orcid":false,"given":"Steven","family":"Ferrell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waylon","family":"Pearson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2016,6,16]]},"reference":[{"key":"2025042703354300000_2016.jun16_1.bcr2016215502.1","unstructured":"Kniffin C , O'Neill M , Hamosh A , et al . OMIM Entry\u2014# 210710\u2014MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1 [Internet]. Omim.org. 2016 [cited 7 March 2016]. http:\/\/www.omim.org\/entry\/210710#24"},{"key":"2025042703354300000_2016.jun16_1.bcr2016215502.2","unstructured":"Orphanet: Microcephalic osteodysplastic primordial dwarfism types I and III. Orpha.net. 2016 [cited 30 March 2016]. http:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=EN&Expert=2636"},{"key":"2025042703354300000_2016.jun16_1.bcr2016215502.3","doi-asserted-by":"publisher","DOI":"10.1126\/science.1200587"},{"key":"2025042703354300000_2016.jun16_1.bcr2016215502.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36009"},{"key":"2025042703354300000_2016.jun16_1.bcr2016215502.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmhg.2012.06.005"},{"key":"2025042703354300000_2016.jun16_1.bcr2016215502.6","doi-asserted-by":"publisher","DOI":"10.1126\/science.1202205"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2016-215502","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T10:35:56Z","timestamp":1745750156000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2016-215502"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,16]]},"references-count":6,"alternative-id":["10.1136\/bcr-2016-215502"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2016-215502","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,16]]}}}