{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T13:10:03Z","timestamp":1745759403361,"version":"3.40.4"},"reference-count":13,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2017,3,15]]},"abstract":"<jats:p>An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient\u2019s only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. However, she had hypermobile hand joints and brachydactyly resulting in loss of left 3\u20135 and right 4 and 5 knuckle definitions. Radiography revealed shortening of metacarpals 3\u20135 on the left and 4 and 5 on the right. Her mother had similar skeletal changes, consistent with a dominant mode of inheritance. Abnormally short digits involving the metacarpals, classified as brachydactyly type E, can be isolated or occur as part of a syndrome. Turner syndrome, Albright hereditary osteodystrophy, hypertension with brachydactyly, chromosome 2q37 microdeletion and<jats:italic>PTHLH<\/jats:italic>mutations were excluded following clinical, biochemical and genetic testing. No specific treatment was required. Genetic testing for isolated and syndromic forms of brachydactyly facilitates family screening and prepregnancy counselling.<\/jats:p>","DOI":"10.1136\/bcr-2016-218825","type":"journal-article","created":{"date-parts":[[2017,4,6]],"date-time":"2017-04-06T15:48:50Z","timestamp":1491493730000},"page":"bcr-2016-218825","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic"],"prefix":"10.1136","volume":"2017","author":[{"given":"Michael M","family":"Page","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda J","family":"Hooper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Glendenning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John R","family":"Burnett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2017,4,6]]},"reference":[{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-15"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.2","first-page":"1","article-title":"The genetics of hand malformations","volume":"14","author":"Temtamy","year":"1978","journal-title":"Birth Defects Orig Artic Ser"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.3","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/1750-1172-8-141","article-title":"Brachydactyly E: isolated or as a feature of a syndrome","volume":"8","author":"Pereda","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.4","doi-asserted-by":"publisher","DOI":"10.1086\/374721"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04026.x"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2287"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2326"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.023"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp553"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.10","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/ajmg.c.30153","article-title":"Chromosome 2q37 deletion: clinical and molecular aspects","volume":"145C","author":"Falk","year":"2007","journal-title":"Am J\u00a0Med Genet C Semin Med Genet"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.11","doi-asserted-by":"publisher","DOI":"10.1086\/316926"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.3.253"},{"key":"2025042705473297000_2017.apr06_4.bcr-2016-218825.13","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3302"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2016-218825","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T12:47:41Z","timestamp":1745758061000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2016-218825"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,6]]},"references-count":13,"alternative-id":["10.1136\/bcr-2016-218825"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2016-218825","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2017,4,6]]}}}