{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T15:10:07Z","timestamp":1745766607167,"version":"3.40.4"},"reference-count":6,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>Acrocallosal syndrome is an extremely rare genetic disorder with autosomal recessive inheritance. It is characterised by moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism. The authors report a case of a young hypertensive male who presented with unprovoked seizures for the first time who had multiple craniofacial, digital dysmorphic features with moderate mental retardation. The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.<\/jats:p>","DOI":"10.1136\/bcr.12.2010.3648","type":"journal-article","created":{"date-parts":[[2011,5,3]],"date-time":"2011-05-03T10:33:56Z","timestamp":1304418836000},"page":"bcr1220103648","source":"Crossref","is-referenced-by-count":3,"title":["Acrocallosal syndrome in a young hypertensive male"],"prefix":"10.1136","volume":"2011","author":[{"given":"Vishal V","family":"Ramteke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pramod A","family":"Darole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zohaib Farooqui","family":"Shaikh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Namita J","family":"Padwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brijesh","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makardhwaj S","family":"Shrivastava","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandhya","family":"Kamath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2011,5,3]]},"reference":[{"key":"2025042707311512000_2011.apr27_1.bcr1220103648.1","unstructured":"Jones KL . Smith\u00e2\u0080\u0099s Recognizable Patterns of Human Malformation. Fifth edition. Saunders 1996:226."},{"key":"2025042707311512000_2011.apr27_1.bcr1220103648.2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02723748"},{"key":"2025042707311512000_2011.apr27_1.bcr1220103648.3","unstructured":"Winter RM Baraitser M . Oxford Medical Databases: London Dysmorphology Database. Oxford University Press 2001."},{"key":"2025042707311512000_2011.apr27_1.bcr1220103648.4","doi-asserted-by":"publisher","DOI":"10.1007\/BF02723749"},{"key":"2025042707311512000_2011.apr27_1.bcr1220103648.5","unstructured":"Scriver CR Sly WS Childs B . The Metabolic and Molecular Bases of Inherited Disease. Eighth edition. New York: Mc Graw Hill 2000:156\u00e2\u0080\u00939."},{"key":"2025042707311512000_2011.apr27_1.bcr1220103648.6","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970303)69:1<17::AID-AJMG4>3.0.CO;2-Q"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.12.2010.3648","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T14:31:24Z","timestamp":1745764284000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.12.2010.3648"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":6,"alternative-id":["10.1136\/bcr.12.2010.3648"],"URL":"https:\/\/doi.org\/10.1136\/bcr.12.2010.3648","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2011]]}}}