{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:21:10Z","timestamp":1760833270645,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,4]]},"abstract":"<jats:p>The risk of recurrence of Hirschsprung's disease in sibs is reasonably well established. Survivors of early successful operations (rectosigmoidectomy) are now reaching adult life and are asking about risks to their children. The authors report a preliminary study on which to base a risk estimate. Studies on sibs show that for short segment index patients the risk to brothers is about 1 in 20 and for sisters about 1 in 100. For long segment patients the risk is about 1 in 10 irrespective of sex. In the present study it was found that one son in 52 was possibly affected, and one daughter in 47 was certainly affected, of short segment index patients. Of long segment index patients one son in three was probably affected, and the one daughter was certainly affected. One long segment patient had a child with a short segment affected and one short segment patient had a child with a long segment affected. This confirms the impression, given by single case reports of parent and child affected, that there is less likelihood of concordance in length of aganglionic segment in parent and child than in sibs. For the present it is appropriate to give an estimated risk of about 2% for offspring of short segment index patients, but a relatively higher risk for offspring of long segment index patients.<\/jats:p>","DOI":"10.1136\/jmg.18.2.87","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"87-90","source":"Crossref","is-referenced-by-count":10,"title":["Children of those treated surgically for Hirschsprung's disease."],"prefix":"10.1136","volume":"18","author":[{"given":"C O","family":"Carter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Hickman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,4,1]]},"reference":[{"key":"ref_1","first-page":"302","volume":"i:","author":"Bodian, M.; Carter, C.O.; Ward, B.C.H.","year":"1951","unstructured":"Bodian M, Carter CO, Ward BCH. Hirschsprung's Disease. Lancet 1951;i:302-9.","journal-title":"Hirschsprung's Disease. Lancet"},{"key":"ref_2","first-page":"314","volume":"36","author":"der Hirschsprungsehen Krankheit. Z Menschl Vererb Konstitutionsl, Althoff W.Zur Genetik","year":"1962","unstructured":"Althoff W. Zur Genetik der Hirschsprungsehen Krankheit. Z Menschl Vererb Konstitutionsl 1962;36:314-40."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1111\/j.1469-1809.1963.tb01983.x","article-title":"A family study of Hirschsprung's disease","volume":"26","author":"Bodian, M.; Carter, C.O.","year":"1963","unstructured":"Bodian M, Carter CO. A family study of Hirschsprung's disease. Ann Hum Genet 1963;26:261-77.","journal-title":"Ann Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1056\/NEJM196701192760303","article-title":"The genetics of Hirschsprung's disease","volume":"276","author":"Passarge, E.","year":"1967","unstructured":"Passarge E. The genetics of Hirschsprung's disease. NEnglJ Med 1967;276:138-43.","journal-title":"NEnglJ Med"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1136\/adc.52.11.898","article-title":"Total intestinal agangliosis. An autosomal recessive condition","volume":"52","author":"McKinnon, A.E.","year":"1977","unstructured":"McKinnon AE. Total intestinal agangliosis. An autosomal recessive condition. Arch Dis Child 1977;52:898-9.","journal-title":"Arch Dis Child"},{"key":"ref_6","first-page":"644","article-title":"Aganglionic disease in the newborn","volume":"56","author":"Donald, J.G.; Donald, J.W.","year":"1964","unstructured":"Donald JG, Donald JW. Aganglionic disease in the newborn. Surgery 1964;56:644-50.","journal-title":"Surgery"},{"key":"ref_7","article-title":"Hirschsprung's disease","author":"Madsen, C.M.","year":"1964","unstructured":"Madsen CM. Hirschsprung's disease. Copenhagen: Munksgaard, 1964."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/S0022-3476(65)80398-5","article-title":"Familial absence of myenteric plexus (congenital megacolon). A study of 6 families","volume":"67","year":"1965","unstructured":"Emanuel B, Padorr MP, Swenson 0. Familial absence of myenteric plexus (congenital megacolon). A study of 6 families. JPediatr 1965;67:381-6.","journal-title":"JPediatr"},{"key":"ref_9","first-page":"264","article-title":"Long segment Hirschsprung's disease","volume":"74","author":"Bowring, A.C.","year":"1966","unstructured":"Bowring AC. Long segment Hirschsprung's disease. Pacific Medicine and Surgery 1966;74:264-6.","journal-title":"Pacific Medicine and Surgery"},{"key":"ref_10","first-page":"58","article-title":"Hirschsprung's disease","author":"Ehrenpreis, T.","year":"1970","unstructured":"Ehrenpreis T. Hirschsprung's disease. Chicago: Year Book Medical Publishers, 1970:58-9."},{"key":"ref_11","first-page":"710","article-title":"Congenital megacolon in a man","volume-title":"of 54 years. Proc Mayo Clinic 1950","volume":"25","author":"Rosin, J.D.; Bargen, J.A.; Waugh, J.M.","unstructured":"Rosin JD, Bargen JA, Waugh JM. Congenital megacolon in a man of 54 years. Proc Mayo Clinic 1950;25:710-3."},{"key":"ref_12","first-page":"706","article-title":"Follow up","volume":"146","author":"0, Swenson","year":"1957","unstructured":"Swenson 0. Follow up on 200 patients treated with Hirschsprung's disease during a 10 year period. Ann Surg 1957;146:706-14.","journal-title":"Ann Surg; treated with Hirschsprung's disease during a 10 year period"},{"key":"ref_13","first-page":"21","article-title":"Genetics of common single malformations","volume":"32","author":"Carter, C.O.","year":"1976","unstructured":"Carter CO. Genetics of common single malformations. BrMVIed Bull 1976;32:21-6."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.2.87","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:14:53Z","timestamp":1760775293000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.2.87"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,4]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1981,4,1]]},"published-print":{"date-parts":[[1981,4]]}},"alternative-id":["10.1136\/jmg.18.2.87"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.2.87","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,4]]}}}