{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T12:24:04Z","timestamp":1776947044648,"version":"3.51.4"},"reference-count":12,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,10]]},"abstract":"<jats:p>The families of 207 index patients treated for spinal dysraphism at The Hospital for Sick Children were studied to discover whether the condition was aetiologically related to the classical neural tube malformation--spina bifida cystica and anencephaly. The index patients had all had a tethered conus medullaris and one or more of a variety of anomalies of the spinal cord, vertebrae, or skin overlying the vertebral column. Of 364 sibs of index patients, 9 had an encephaly and 6 spina bifida cystica, a pro-proportion of 4.12%. This approximates to the proportion of sibs affected by neural tube malformations in the London region when the index patients themselves have spina bifida or anencephaly. It is, therefore, appropriate that the mothers of children with spinal dysraphism should be offered prenatal screening for neural tube malformations.<\/jats:p>","DOI":"10.1136\/jmg.13.5.343","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"343-350","source":"Crossref","is-referenced-by-count":47,"title":["Spinal dysraphism: genetic relation to neural tube malformations."],"prefix":"10.1136","volume":"13","author":[{"given":"C O","family":"Carter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K A","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Till","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.5.2.81","article-title":"A family study of major central nervous system malformation in South Wales","volume":"5","author":"Carter, C.O.; David, P.A.; Laurence, K.M.","year":"1968","unstructured":"Carter, C. O., David, P. A., and Laurence, K. M. (1968). A family study of major central nervous system malformation in South Wales. Journal of Medical Genetics, 5, 81-106.","journal-title":"Journal of Medical Genetics"},{"key":"ref_2","first-page":"209234","article-title":"Spina bifida and anencephalus in Greater London","volume":"10","author":"Carter, C.O.; Evans, K.A.","year":"1973","unstructured":"Carter, C. O., and Evans, K. A. (1973a). Spina bifida and anencephalus in Greater London. Journal of Medical Genetics, 10, 209234.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1016\/S0140-6736(73)92593-2","article-title":"Children of adult survivors with spina bifida cystics","volume":"2","author":"Carter, C. 0.; Evans, K. A","year":"1973","unstructured":"Carter, C. 0. and Evans, K. A. (1973b). Children of adult survivors with spina bifida cystics. Lancet, 2, 924-926.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/path.1711100110","article-title":"The local cord lesion in neurospinal dysraphism (meningomyelocele)","volume":"110","author":"Emery, J.L.; Lendon, R.G.","year":"1973","unstructured":"Emery, J. L. and Lendon, R. G. (1973). The local cord lesion in neurospinal dysraphism (meningomyelocele). Journal of Pathology, 110, 83-96.","journal-title":"Journal of Pathology"},{"key":"ref_5","first-page":"389","article-title":"Spina bifida occulta in the parents of offspring with neural tube defects","volume":"22","year":"1974","unstructured":"Gardner, R. J. M., Alexander, C., and Veale, A. M. 0. (1974). Spina bifida occulta in the parents of offspring with neural tube defects. Journal de Genetique Humaine, 22, 389-395.","journal-title":"Journal de Genetique Humaine"},{"key":"ref_6","article-title":"Spinal Dysraphism","author":"James, M.; Lassman, L.P.","year":"1972","unstructured":"James, M. and Lassman, L. P. (1972). Spinal Dysraphism. Butterworths, London."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.2106\/00004623-197355070-00009","article-title":"Diastematomyelia and scoliosis","volume":"55","author":"Keim, H.A.; Greene, A.F.","year":"1973","unstructured":"Keim, H. A. and Greene, A. F. (1973). Diastematomyelia and scoliosis. Journal of Bone and Joint Surgery, 55A, 1425-1435.","journal-title":"Journal of Bone and Joint Surgery"},{"key":"ref_8","series-title":"proceedings of the 13th International Congress of Paediatrics","first-page":"415","article-title":"Vertebral abnormalities in parents and sibs of cases of spina bifida cystica, enencephalocoele, and anencephaly","volume":"2","author":"Laurence, K.M.; Bligh, A.S.; Evans, K.T.; Shurtleff, D.B.","year":"1971","unstructured":"Laurence, K. M., Bligh, A. S., Evans, K. T., and Shurtleff, D. B. (1971). Vertebral abnormalities in parents and sibs of cases of spina bifida cystica, enencephalocoele, and anencephaly. In proceedings of the 13th International Congress of Paediatrics, V-2, 415."},{"key":"ref_9","first-page":"217","article-title":"Congenital malformations of the central nervous system III Risks of malformation in sibs of malformed individuals","volume":"4","author":"Record, R.G.; McKeown, T.","year":"1950","unstructured":"Record, R. G. and McKeown, T. (1950). Congenital malformations of the central nervous system III Risks of malformation in sibs of malformed individuals. British Journal of Preventive and Social Medicine, 4, 217-220.","journal-title":"British Journal of Preventive and Social Medicine"},{"key":"ref_10","first-page":"471","article-title":"Spinal dysraphism: a study of congenital malformations of the back","volume":"10","author":"Till, K.","year":"1969","unstructured":"Till, K. (1969). Spinal dysraphism: a study of congenital malformations of the back. Developmental Medicine and Child Neurology, 10, 471-478.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1016\/S0140-6736(73)91133-1","article-title":"The spinal cord in spinal dysraphism","volume":"2","author":"Williams, B.","year":"1973","unstructured":"Williams, B. (1973). The spinal cord in spinal dysraphism. Lancet, 2, 1034.","journal-title":"Lancet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1136\/jmg.12.3.280","article-title":"Congenital vertebral anomalies; aetiology and relationship to spina bifida cystica","volume":"12","author":"Wynne Davies, R.","year":"1975","unstructured":"Wynne Davies, R. (1975). Congenital vertebral anomalies; aetiology and relationship to spina bifida cystica. Journal of Medical Genetics, 12, 136-145.","journal-title":"Journal of Medical Genetics"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.5.343","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:38:01Z","timestamp":1760762281000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.5.343"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,10]]},"references-count":12,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1976,10,1]]},"published-print":{"date-parts":[[1976,10]]}},"alternative-id":["10.1136\/jmg.13.5.343"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.5.343","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1976,10]]}}}