{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T22:10:50Z","timestamp":1765404650886,"version":"3.46.0"},"reference-count":34,"publisher":"BMJ","issue":"6440","license":[{"start":{"date-parts":[[1984,8,4]],"date-time":"1984-08-04T00:00:00Z","timestamp":460425600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.bmj.com\/company\/legal-information\/terms-conditions\/legal-information\/tdm-licencepolicy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br Med J (Clin Res Ed)"],"published-print":{"date-parts":[[1984,8,4]]},"abstract":"<jats:p>A longitudinal study was carried out on the family history of 270 babies with uncomplicated congenital hydrocephalus. They had 453 siblings of whom five (11.1\/1000) had congenital hydrocephalus and nine (19.9\/1000) neural tube defects. These data, together with those obtained from previously published reports indicate that the aetiology of the two conditions is probably the same in many cases, although there are unusual exceptions in special families even apart from those with the sex linked, recessively inherited hydrocephalus.<\/jats:p>","DOI":"10.1136\/bmj.289.6440.281","type":"journal-article","created":{"date-parts":[[2009,4,2]],"date-time":"2009-04-02T11:00:59Z","timestamp":1238670059000},"page":"281-284","source":"Crossref","is-referenced-by-count":15,"title":["The family history of uncomplicated congenital hydrocephalus: an epidemiological study based on 270 probands."],"prefix":"10.1136","volume":"289","author":[{"given":"J","family":"Lorber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,8,4]]},"reference":[{"key":"ref_1","unstructured":"Rhode Island Williamson","article-title":"Rhode Island Williamson"},{"author":"Southampton Smithells et all","key":"ref_2","unstructured":"Southampton Smithells et all"},{"author":"Liverpool Carter et all","key":"ref_3","unstructured":"Liverpool Carter et all"},{"key":"ref_4","unstructured":"Rural south Wales Czeizel and Revesz'9","article-title":"Rural south Wales Czeizel and Revesz'9"},{"article-title":"Lorber and De6","author":"Budapest","key":"ref_5","unstructured":"Budapest Lorber and De6"},{"article-title":"Bay et a120","author":"Sheffield","key":"ref_6","unstructured":"Sheffield Bay et a120"},{"key":"ref_7","unstructured":"San Francisco Burton"},{"article-title":"Chicago Howard et al'' Adams et all'","volume-title":"This series","key":"ref_8","unstructured":"Chicago Howard et al'' Adams et all' This series"},{"key":"ref_9","unstructured":"Northern Ireland"},{"key":"ref_10","unstructured":"Even allowing for the small numbers, the incidence of defects of the central nervous system among the sibs of probands with hydrocephalus was far higher than in the general population. Exactly how much cannot be calculated because the incidence of defects of the central nervous system has varied considerably and has declined, especially in the past 10 years.5 This decline was far greater than could be accounted for by the number of terminations of pregnancies after antenatal diagnosis8 9; this consideration applies particularly to hydrocephalus unassociated with spina bifida because the antenatal diagnosis of congenital hydrocephalus was still rare. Yet, although in England and Wales the incidence of hydrocephalus dropped progressively from 0 48\/1000 in 1974 to 0 29\/1000 in 1981, in the present series of 270 probands hydrocephalus affected five siblings or 110\/1000, the three born after the proband representing an incidence of 17 1\/1000, at least 20 times higher than in the general population.","article-title":"Even allowing for the small numbers, the incidence of defects of the central nervous system among the sibs of probands with hydrocephalus was far higher than in the general population. Exactly how much cannot be calculated because the incidence of defects of the central nervous system has varied considerably and has declined, especially in the past 10 years.5 This decline was far greater than could be accounted for by the number of terminations of pregnancies after antenatal diagnosis8 9; this consideration applies particularly to hydrocephalus unassociated with spina bifida because the antenatal diagnosis of congenital hydrocephalus was still rare. Yet, although in England and Wales the incidence of hydrocephalus dropped progressively from 0 48\/1000 in 1974 to 0 29\/1000 in 1981, in the present series of 270 probands hydrocephalus affected five siblings or 110\/1000, the three born after the proband representing an incidence of 17 1\/1000, at least 20 times higher than in the general population"},{"key":"ref_11","article-title":"Similar considerations apply to neural tube defects. In 1974 their incidence in England and Wales was 3-1\/1000 and in 1982 it dropped to 1-4\/1000. (It was probably about 2 0\/1000 if one includes terminations of pregnancies.) The nine neural tube defects among all the 453 siblings in this series represents an incidence of","volume-title":"and the four born after the proband 22 9\/1000 -that is, about 10 to 20 times greater than in the general population. The risk of having a baby with a neural tube defect after giving birth to a baby with hydrocephalus is of the same order as of having a baby with congenital hydrocephalus. These data strongly support the earlier conclusion that there is a close aetiological relation between uncomplicated hydrocephalus and spina bifida or anencephaly.6 This observation is supported by the high incidence of uncomplicated hydrocephalus among the sibs of patients with spina bifida.1","volume":"9","year":"19","unstructured":"Similar considerations apply to neural tube defects. In 1974 their incidence in England and Wales was 3-1\/1000 and in 1982 it dropped to 1-4\/1000. (It was probably about 2 0\/1000 if one includes terminations of pregnancies.) The nine neural tube defects among all the 453 siblings in this series represents an incidence of 19 9 and the four born after the proband 22 9\/1000 -that is, about 10 to 20 times greater than in the general population. The risk of having a baby with a neural tube defect after giving birth to a baby with hydrocephalus is of the same order as of having a baby with congenital hydrocephalus. These data strongly support the earlier conclusion that there is a close aetiological relation between uncomplicated hydrocephalus and spina bifida or anencephaly.6 This observation is supported by the high incidence of uncomplicated hydrocephalus among the sibs of patients with spina bifida.1"},{"key":"ref_12","article-title":"Table III summarises the published data concerning the incidence of hydrocephalus and of neural tube defects in the sibs of probands with hydrocephalus, including the data from the current paper. Despite the divergence in the definition of congenital hydrocephalus by different authors, the incidence of hydrocephalus in sibs of probands with hydrocephalus is evidently about 20 times higher than in the general population","volume-title":"of the 1992 sibs had congenital hydrocephalus (15 5\/1000), which is at least 15 to 20 times higher than the incidence in the general population","year":"31","unstructured":"Table III summarises the published data concerning the incidence of hydrocephalus and of neural tube defects in the sibs of probands with hydrocephalus, including the data from the current paper. Despite the divergence in the definition of congenital hydrocephalus by different authors, the incidence of hydrocephalus in sibs of probands with hydrocephalus is evidently about 20 times higher than in the general population. In all the series, including my own, 31 of the 1992 sibs had congenital hydrocephalus (15 5\/1000), which is at least 15 to 20 times higher than the incidence in the general population."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1542\/peds.35.4.589","article-title":"The family history of spina bifida cystica","volume":"35","author":"Lorber, J.","year":"1965","unstructured":"Lorber J. The family history of spina bifida cystica. Pediatrics 1965;35:589-95.","journal-title":"Pediatrics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.5.2.81","article-title":"A family study of major central nervous system malformations in south Wales","volume":"5","author":"Carter, C.O.; David, P.A.; Laurence, K.M.","year":"1968","unstructured":"Carter CO, David PA, Laurence KM. A family study of major central nervous system malformations in south Wales. J Med Genet 1968;5:81-106.","journal-title":"J Med Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/S0140-6736(67)91240-8","article-title":"The risk of recurrence after two children with central nervous system malformations","volume":"i:","author":"Carter, C.O.; Roberts, F.","year":"1967","unstructured":"Carter CO, Roberts F. The risk of recurrence after two children with central nervous system malformations. Lancet 1967;i:306-8.","journal-title":"Lancet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/S0140-6736(83)92654-5","article-title":"Further experience of vitamin supplementation for prevention of neural tube defect recurrences","volume":"i:","author":"Smithells, R.W.; Seller, M.J.; Harris, R.","year":"1983","unstructured":"Smithells RW, Seller MJ, Harris R, et al. Further experience of vitamin supplementation for prevention of neural tube defect recurrences. 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Arch Dis Child 1961;36: 486-93.","journal-title":"Arch Dis Child"},{"key":"ref_20","first-page":"85","article-title":"A review of some effects of recent medical practices in reducing the numbers of children born with congenital abnormalities","volume":"14","author":"Weatherall, J.A.C.","year":"1982","unstructured":"Weatherall JAC. A review of some effects of recent medical practices in reducing the numbers of children born with congenital abnormalities. Health Trends 1982; 14:85-8.","journal-title":"Health Trends"},{"key":"ref_21","first-page":"127","article-title":"Prevention of neural tube defects in an area of high incidence","volume-title":"Prevention of spina bifida and other neural tube defects","author":"Nevin, N.C.","year":"1983","unstructured":"Nevin NC. Prevention of neural tube defects in an area of high incidence. In: Dobbing J, ed. Prevention of spina bifida and other neural tube defects. 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Reproductive history and familial incidence","volume":"4","author":"Record, R.G.; McKeown, T.","year":"1950","unstructured":"Record RG, McKeown T. Congenital malformations of the central nervous system. II. Reproductive history and familial incidence. British Journal of Social Medicine 1950;4:26.","journal-title":"British Journal of Social Medicine"},{"key":"ref_25","first-page":"157","article-title":"Sur l'etiologie de l'hydrocephalie congenitale a propos d'un cas d'hydrocephalie concordant chez de jumeaux univitellins","volume":"2","author":"Borle, A.","year":"1953","unstructured":"Borle A. Sur l'etiologie de l'hydrocephalie congenitale a propos d'un cas d'hydrocephalie concordant chez de jumeaux univitellins. Journal of Human Genetics 1953;2: 157.","journal-title":"Journal of Human Genetics"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1136\/adc.34.175.274","article-title":"Congenital hydrocephalus in monovular twins","volume":"34","author":"Gellman, V.","year":"1959","unstructured":"Gellman V. Congenital hydrocephalus in monovular twins. Arch Dis Child 1959; 34:274.","journal-title":"Arch Dis Child"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1111\/j.1469-8749.1968.tb04824.x","article-title":"The outcome of pregnancies before and after the birth of infants with nervous system malformations","volume":"15","author":"Smithells, R.W.; D'Arcy, E.E.; McAllister, E.F.","year":"1968","unstructured":"* Smithells RW, D'Arcy EE, McAllister EF. The outcome of pregnancies before and after the birth of infants with nervous system malformations. 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J7 Med Genet 1981;18:252-5.","journal-title":"J7 Med Genet"},{"author":"Accepted 15,7une 1984)","key":"ref_34","unstructured":"(Accepted 15,7une 1984)"}],"container-title":["BMJ"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/data.bmj.org\/tdm\/10.1136\/bmj.289.6440.281","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bmj.289.6440.281","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T22:06:02Z","timestamp":1765404362000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.bmj.com\/lookup\/doi\/10.1136\/bmj.289.6440.281"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,8,4]]},"references-count":34,"journal-issue":{"issue":"6440","published-online":{"date-parts":[[1984,8,4]]},"published-print":{"date-parts":[[1984,8,4]]}},"alternative-id":["10.1136\/bmj.289.6440.281"],"URL":"https:\/\/doi.org\/10.1136\/bmj.289.6440.281","relation":{},"ISSN":["0007-1447","1468-5833"],"issn-type":[{"type":"print","value":"0007-1447"},{"type":"electronic","value":"1468-5833"}],"subject":[],"published":{"date-parts":[[1984,8,4]]}}}