{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:37:46Z","timestamp":1787017066414,"version":"build-2736575974"},"reference-count":6,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,5]]},"abstract":"<jats:p>First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocallosal syndrome. Both patients had a defect of the corpus callosum, macrocephaly with a protruding forehead and occiput, hypertelorism, non-horizontal palpebral fissures, a small nose, notched ear lobes, and postaxial polydactyly of the hands. The boy, in addition, had hypospadias, cryptorchidism, inguinal hernias, duplication with syndactyly of the phalanges of the big toe, and a bipartite right clavicle. The girl had an arachnoidal cyst, a calvarian defect, and digitalisation of the thumbs. Motor and mental development was retarded in both patients. This observation provides further evidence of probable autosomal recessive inheritance of the acrocallosal syndrome and widens the spectrum of clinical findings and the variability of features in this rare malformation syndrome.<\/jats:p>","DOI":"10.1136\/jmg.25.5.332","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"332-336","source":"Crossref","is-referenced-by-count":35,"title":["The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance."],"prefix":"10.1136","volume":"25","author":[{"given":"A","family":"Schinzel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1988,5,1]]},"reference":[{"key":"ref_1","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. Am J Med Genet 1980;6:241-9.","journal-title":"Am J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/ajmg.1320120209","article-title":"The acrocallosal syndrome","volume":"12","author":"Nelson, M.M.; Thomson, A.J.","year":"1982","unstructured":"Nelson MM, Thomson AJ. The acrocallosal syndrome. Am J Med Genet 1982;12:195-9.","journal-title":"Am J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/ajmg.1320200115","article-title":"Duplication of hands and feet, multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: acrocallosal syndrome?","volume":"20","author":"Sanchis, A.; Cervero, L.; Martinez, A.; Valverde, C.","year":"1985","unstructured":"Sanchis A, Cervero L, Martinez A, Valverde C. Duplication of hands and feet, multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: acrocallosal syndrome? Am J Med Genet 1985;20:123-30.","journal-title":"Am J Med Genet"},{"key":"ref_4","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.; Boel, M.; Eggermont, E.","year":"1985","unstructured":"Legius E, Fryns JP, Casaer P, Boel M, Eggermont E. Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? Ann Genet (Paris) 1985;28:239-40.","journal-title":"Ann Genet (Paris)"},{"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.; Kaufmann, U.","year":"1986","unstructured":"Schinzel A, Kaufmann U. The acrocallosal syndrome in sisters. Clin Genet 1986;30:399-405.","journal-title":"Clin Genet"},{"key":"ref_6","first-page":"141","article-title":"Postaxial polydactyly. hallux duplication. abscncc of thc corpus callosum. macrcnccphaly and sevcrc mcntal rctardation: a new syndromnc? Helv Ptiediatr Act","volume":"34","author":"Schinzcl, A.","year":"1979","unstructured":"Schinzcl A. Postaxial polydactyly. hallux duplication. abscncc of thc corpus callosum. macrcnccphaly and sevcrc mcntal rctardation: a new syndromnc? Helv Ptiediatr Act 1979:34: 141-6."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.5.332","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:55:46Z","timestamp":1759686946000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.5.332"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,5]]},"references-count":6,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1988,5,1]]},"published-print":{"date-parts":[[1988,5]]}},"alternative-id":["10.1136\/jmg.25.5.332"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.5.332","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,5]]}}}