{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T06:37:41Z","timestamp":1779345461939,"version":"3.51.4"},"reference-count":13,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,9]]},"abstract":"<jats:p>Two sisters are described. They are offspring of Arabic parents who are both first and second cousins, through both sets of grandparents; additionally the father's parents are first cousins. The diagnosis of agenesis of the corpus callosum in the propositae was made by the characteristic picture on the pneumoencephalogram.<\/jats:p>\n               <jats:p>The clinical symptoms in the two sisters varied considerably. The older sister had shown delayed psychomotor development in infancy, mild mental retardation, and developed seizures at 7 years of age of both the grand mal and akinetic types. Her physical and neurological examination did not show any abnormalities. The EEG was severely abnormal with slow wave activity over the posterior parts of the brain and focal spiking. The younger sister presented at 6 months of age with failure to thrive, generalized hypotonia, but without seizures. Her EEG was within normal limits.<\/jats:p>\n               <jats:p>This anomaly was probably transmitted by an autosomal recessive gene. The clinical and genetic aspects of this syndrome are discussed.<\/jats:p>","DOI":"10.1136\/jmg.10.3.266","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"266-269","source":"Crossref","is-referenced-by-count":28,"title":["Agenesis of the Corpus Callosum in Two Sisters"],"prefix":"10.1136","volume":"10","author":[{"given":"Yehuda","family":"Shapira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tirza","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1212\/WNL.4.3.200","article-title":"Agenesis of corpus callosum. Study of 18 cases diagnosed during life","volume":"4","author":"Carpenter, M.B.","year":"1954","unstructured":"Carpenter, M. B. (1954). Agenesis of corpus callosum. Study of 18 cases diagnosed during life. Neurology, 4, 200-210.","journal-title":"Neurology"},{"key":"ref_2","first-page":"1","article-title":"Agenesis of the corpus callosum. Its diagnosis by encephalography. Report of 3 cases. AmericanJ3ournal of","volume":"32","author":"Davidoff, L.M.; Dyke, C.G.","year":"1934","unstructured":"Davidoff, L. M. and Dyke, C. G. (1934). Agenesis of the corpus callosum. Its diagnosis by encephalography. Report of 3 cases. AmericanJ3ournal of Roentgenology, 32, 1-10.","journal-title":"Roentgenology"},{"key":"ref_3","first-page":"377","article-title":"Agenesis of the corpus callosum in two brothers","volume":"89","author":"Dogan, K.; Dogan, S.; Lovrencic, M.","year":"1967","unstructured":"Dogan, K., Dogan, S., and Lovrencic, M. (1967). Agenesis of the corpus callosum in two brothers. Lijecnicki Vjesnik, 89, 377-385.","journal-title":"Lijecnicki Vjesnik"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1016\/0013-4694(69)91315-7","article-title":"Visual evoked responses in normal, acallosal and 'spit brain'","volume":"27","author":"Galbraith, G.C.; Saul, R.E.; Gliddon, J.B.","year":"1969","unstructured":"Galbraith, G. C., Saul, R. E., and Gliddon, J. B. (1969). Visual evoked responses in normal, acallosal and 'spit brain' patients. Electroencephalography and Clinical Neurophysiology, 27, 690.","journal-title":"patients. Electroencephalography and Clinical Neurophysiology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/pgmj.41.472.73","article-title":"Agenesis of the corpus callosum","volume":"41","author":"Harcourt-Webster, J.N.; Rack, J.H.","year":"1965","unstructured":"Harcourt-Webster, J. N. and Rack, J. H. (1965). Agenesis of the corpus callosum. Postgraduate Medical Journal, 41, 73-79.","journal-title":"Postgraduate Medical Journal"},{"key":"ref_6","first-page":"433","article-title":"Malformations vertebrales et division palatine chez deux soeurs, associ6es chez l'une d'elles, a une ag.nesie du corps calleux","volume-title":"Schweizer","volume":"77","author":"Henneaux, J.","year":"1956","unstructured":"Henneaux, J. (1956). Malformations vertebrales et division palatine chez deux soeurs, associ6es chez l'une d'elles, a une ag.nesie du corps calleux. Schweizer Archiv fur Neurologie und Psychiatrie, 77, 433-441."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1001\/archneur.1964.00460200094009","article-title":"Hereditary partial agenesis of corpus callosum","volume":"11","author":"Menkes, J.H.; Philippart, M.; Clark, D.B.","year":"1964","unstructured":"Menkes, J. H., Philippart, M., and Clark, D. B. (1964). Hereditary partial agenesis of corpus callosum. Archives of Neurology, 11, 198-208.","journal-title":"Archives of Neurology"},{"key":"ref_8","first-page":"1","article-title":"The neocortical commisures and interhemispheric transmission of information. In Functions of the Corpus Callosum","volume-title":"CIBA Foundation Study Group,","volume":"20","author":"Meyers, R.E.","year":"1965","unstructured":"Meyers, R. E. (1965). The neocortical commisures and interhemispheric transmission of information. In Functions of the Corpus Callosum, ed. by E. G. Ettlinger, pp. 1-7. CIBA Foundation Study Group, No. 20. Churchill, London."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1001\/archneurpsyc.1955.02330140066013","article-title":"Agenesis of the corpus callosam. A report of two cases in siblings","volume":"74","author":"Naiman, J.; Fraser, F.C.","year":"1955","unstructured":"Naiman, J. and Fraser, F. C. (1955). Agenesis of the corpus callosam. A report of two cases in siblings. Archives of Neurology and Psychiatry, 74, 182-185.","journal-title":"Archives of Neurology and Psychiatry"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1136\/jnnp.16.2.117","article-title":"The radiological appearances of agenesis of the corpus callosum","volume":"16","author":"Sheldon, W.P.E.; Peyman, A.","year":"1953","unstructured":"Sheldon, W. P. E. and Peyman, A. (1953). The radiological appearances of agenesis of the corpus callosum. Journal of Neurology, Neurosurgery and Psychiatry, 16, 117-123.","journal-title":"Journal of Neurology, Neurosurgery and Psychiatry"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1001\/archneurpsyc.1940.02280100042004","article-title":"Surgical division of commissural pathways in the corpus callosum","volume":"44","author":"Wagenen, W.van; Herren, R.","year":"1940","unstructured":"Wagenen, W. van and Herren, R. (1940). Surgical division of commissural pathways in the corpus callosum. 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Helvetica Pediatrica Acta, 13, 169-184.","journal-title":"Helvetica Pediatrica Acta"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.3.266","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:48:42Z","timestamp":1760730522000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.3.266"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,9]]},"references-count":13,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1973,9,1]]},"published-print":{"date-parts":[[1973,9]]}},"alternative-id":["10.1136\/jmg.10.3.266"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.3.266","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1973,9]]}}}