{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:10:01Z","timestamp":1759691401962,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,1]]},"abstract":"<jats:p>A 6 month old Turkish boy with the acrocallosal syndrome is reported. The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and mental retardation, hypotonia, and absence of the corpus callosum. The mode of inheritance is discussed and our case is compared with previously reported cases of the syndrome.<\/jats:p>","DOI":"10.1136\/jmg.27.1.48","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"48-49","source":"Crossref","is-referenced-by-count":8,"title":["The acrocallosal syndrome in a Turkish boy."],"prefix":"10.1136","volume":"27","author":[{"given":"M","family":"Y\u00fcksel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Caliskan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"O\u011fur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Ozmen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Dolunay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Apak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,1,1]]},"reference":[{"key":"ref_1","first-page":"141","article-title":"Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?","volume":"34","author":"Schinzel, A.","year":"1979","unstructured":"Schinzel A. Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? Helv Paediatr Acta 1979;34:141-6.","journal-title":"Helv Paediatr Acta"},{"key":"ref_2","first-page":"239","article-title":"Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?","volume":"28","author":"Legius, E.; Fryns, J.P.; Casaer, P.","year":"1985","unstructured":"Legius E, Fryns JP, Casaer P. Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? Ann Genet (Paris) 1985;28:239-40.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1007\/BF00442226","article-title":"The acrocallosal syndrome","volume":"147","author":"Philip, N.; Apicella, N.; Lassman, J.","year":"1988","unstructured":"Philip N, Apicella N, Lassman J. The acrocallosal syndrome. Eur J. Pediatr 1988;147:206-8.","journal-title":"Eur J. Pediatr"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/ajmg.1320060308","article-title":"Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation and additional anomalies in two unrelated patients: a new syndrome","volume":"6","author":"Schinzel, A.; Schmid, W.","year":"1980","unstructured":"Schinzel A, Schmid W. Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation and additional anomalies in two unrelated patients: a new syndrome. AmJt Med Genet 1980;6:241-9.","journal-title":"AmJt Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/j.1399-0004.1986.tb01897.x","article-title":"The acrocallosal syndrome in sisters","volume":"30","author":"Schinzel, A.; Kaufman, U.","year":"1986","unstructured":"Schinzel A, Kaufman U. The acrocallosal syndrome in sisters. Clin Genet 1986;30:399-405.","journal-title":"Clin Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1136\/jmg.25.5.332","article-title":"The acrocallosal syndrome in first cousins; widening of the spectrum of autosomal recessive clinical features and further support for inheritance","volume":"25","author":"Schinzel, A.","year":"1988","unstructured":"Schinzel A. The acrocallosal syndrome in first cousins; widening of the spectrum of autosomal recessive clinical features and further support for inheritance. J Med Genet 1988;25:332-6.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1111\/j.1399-0004.1988.tb02888.x","article-title":"Consanguineous marriages in the Turkish population","volume":"34","author":"Basaran, N.; Sayli, B.S.; Basaran, A.","year":"1988","unstructured":"Basaran N, Sayli BS, Basaran A. Consanguineous marriages in the Turkish population. Clin Genet 1988;34:339-41.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.1.48","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:28:15Z","timestamp":1759688895000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.1.48"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,1]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1990,1,1]]},"published-print":{"date-parts":[[1990,1]]}},"alternative-id":["10.1136\/jmg.27.1.48"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.1.48","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1990,1]]}}}