{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T05:43:40Z","timestamp":1770529420507,"version":"3.49.0"},"reference-count":12,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1975,12]]},"abstract":"<jats:p>Successful fetoscopy using a 9 mm laparoscope was carried out on an 18-week pregnancy of a healthy woman who had had two previous male infants with bilateral double big toes, bilateral ulnar supernumerary digits associated with short segment Hirschsprung's disease, and ventricular septal defect of the heart, a syndrome apparently not previously described. The fetus was found to be normal, but an amniotic membrane defect was detected, which accounted for amniotic fluid leakage from 24 weeks up to delivery by caesaren section of a normal male infant at 35 weeks. The possible genetic basis and recurrence risk, put at probably one in four for this syndrome, is discussed. The indications for fetoscopy are set out and a fundal approach at laparotomy after placental localization is recommended for the procedure.<\/jats:p>","DOI":"10.1136\/jmg.12.4.334","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"334-338","source":"Crossref","is-referenced-by-count":30,"title":["Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy."],"prefix":"10.1136","volume":"12","author":[{"given":"K M","family":"Laurence","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Prosser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Rocker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J F","family":"Pearson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Richard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,12,1]]},"reference":[{"key":"ref_1","first-page":"314","article-title":"Zur Genetik der Hirschsprungischen","volume":"36","author":"Althoff, W.","year":"1962","unstructured":"Althoff, W. (1962). Zur Genetik der Hirschsprungischen Krankheit. Zeitschrift fur menschliche Vererbungs-und Konstitutionslehre, 36, 314-340."},{"key":"ref_2","first-page":"26","article-title":"A family study of Hirschsprung's disease","author":"Bodian, M.; Carter, C. 0","year":"1963","unstructured":"Bodian, M. and Carter, C. 0. (1963). A family study of Hirschsprung's disease. Annals ofHuman Genetics, 26,261-277.","journal-title":"Annals ofHuman Genetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/S0022-3476(65)80398-5","article-title":"Familial absence of myenteric plexus","volume":"67","year":"1965","unstructured":"Emanuel, B., Padorr, M. P., and Swenson, 0. (1965). Familial absence of myenteric plexus. Journal of Pediatrics, 67, 381-386.","journal-title":"Journal of Pediatrics"},{"key":"ref_4","first-page":"2","article-title":"Neonatal Hirschsprung's disease","author":"Fraser, G.C.; Wilkinson, A.W.","year":"1967","unstructured":"Fraser, G. C. and Wilkinson, A. W. (1967). Neonatal Hirschsprung's disease. British MedicalJournal, 2,7-10.","journal-title":"British MedicalJournal"},{"key":"ref_5","first-page":"182","article-title":"Hirschsprungsche Krankheit in Neugeborenalter","volume":"3","author":"Hofmann, S.; Rehbein, F.","year":"1966","unstructured":"Hofmann, S. and Rehbein, F. (1966). Hirschsprungsche Krankheit in Neugeborenalter. Zentralblattfur Kinderchirugie, 3, 182-194.","journal-title":"Zentralblattfur Kinderchirugie"},{"key":"ref_6","first-page":"1120","article-title":"Fetoscopy followed by live birth","volume":"2","author":"Laurence, K.M.; Pearson, J.F.; Prosser, R.; Richards, C.; Rocker, I.","year":"1974","unstructured":"Laurence, K. M., Pearson, J. F., Prosser, R., Richards, C., and Rocker, I. (1974). Fetoscopy followed by live birth. (Letter.) Lancet, 2, 1120-1121.","journal-title":"(Letter.) Lancet"},{"key":"ref_7","article-title":"Hirschsprung's Disease. Munksgaard, Copenhagen and Charles C","author":"Madsen, C.M.","year":"1964","unstructured":"Madsen, C. M. (1964). Hirschsprung's Disease. Munksgaard, Copenhagen and Charles C. Thomas, Springfield, Illinois."},{"key":"ref_8","first-page":"138","article-title":"Genetics of Hirschsprung's disease","volume":"276","author":"Passarge, E.","year":"1967","unstructured":"Passarge, E. (1967). Genetics of Hirschsprung's disease. New England Journal of Medicine, 276, 138-143.","journal-title":"New England Journal of Medicine"},{"key":"ref_9","first-page":"234","article-title":"Fetoscopy","author":"Scrimgeour, J.B.","year":"1974","unstructured":"Scrimgeour, J. B. (1974). Fetoscopy. In Birth Defects, ed. by A. G. Motulsky and W. Lenz, pp. 234-239. Excerpta Medica, Amsterdam."},{"key":"ref_10","first-page":"267","article-title":"Studien uber Megacolon. Beitrdge zur klinischen","volume":"151","author":"Upmark, E.","year":"1930","unstructured":"Upmark, E. Ask (1930). Studien uber Megacolon. Beitrdge zur klinischen Chirugie, 151, 267-317.","journal-title":"Ask"},{"key":"ref_11","first-page":"26","article-title":"Endoamniotic and Fetal Biopsy for Prenatal Genetic Diagnosis","volume":"297","author":"Valenti, C.","year":"1973","unstructured":"Valenti, C. (1973). Endoamniotic and Fetal Biopsy for Prenatal Genetic Diagnosis, pp. 26-27. International Congress Series, No. 297. Excerpta Medica, Amsterdam.","journal-title":"International Congress Series"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1016\/S0140-6736(57)91388-0","article-title":"Course and management of Hirschsprung's disease","volume":"1","author":"Wylie, G.G.","year":"1957","unstructured":"Wylie, G. G. (1957). Course and management of Hirschsprung's disease. Lancet, 1, 847-850.","journal-title":"Lancet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.4.334","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:20:36Z","timestamp":1760732436000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.4.334"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,12]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1975,12,1]]},"published-print":{"date-parts":[[1975,12]]}},"alternative-id":["10.1136\/jmg.12.4.334"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.4.334","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1975,12]]}}}