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It is suggested that this might represent a new autosomal recessive syndrome.<\/jats:p>","DOI":"10.1136\/jmg.25.3.204","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"204-205","source":"Crossref","is-referenced-by-count":33,"title":["Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome."],"prefix":"10.1136","volume":"25","author":[{"given":"H","family":"Santos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Mateus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M J","family":"Leal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,3,1]]},"reference":[{"key":"ref_1","article-title":"Hirschsprung disease and other developmental defects of the gastro-intestinal tract","volume-title":"Principles and practice in medical genetics","author":"Passarge, E.","unstructured":"Passarge E. Hirschsprung disease and other developmental defects of the gastro-intestinal tract. In: Emery AEH, Rimoin DL, eds. Principles and practice in medical genetics. 1st ed. New","edition":"1st ed"},{"key":"ref_2","first-page":"886","year":"1983","unstructured":"York: Churchill Livingstone, 1983:886-9."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1136\/jmg.12.4.334","article-title":"Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy","volume":"12","author":"Laurence, K.M.; Prosser, R.; Rocker, I.; Pearson, J.F.; Richards, C.","year":"1975","unstructured":"Laurence KM, Prosser R, Rocker I, Pearson JF, Richards C. Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy. 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J Pediatr Surg 1986;21:248-50.","journal-title":"J Med Genet; Associated developmental abnormalities of the anterior end of the neural crest: Hirschsprung's disease-Waardenburg's syndrome"},{"key":"ref_6","first-page":"299","article-title":"White forelock, pigmentary disorder of irides and long segment Hirschsprung disease: possible variant of Waardenburg syndrome","volume":"76","author":"Shah, K.N.; Dalal, S.J.; Desai, M.P.; Sheth, P.M.; Jochi, N.C.; Ambani, L.M.","year":"1981","unstructured":"Shah KN, Dalal SJ, Desai MP, Sheth PM, Jochi NC, Ambani LM. White forelock, pigmentary disorder of irides and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr 1981;99:443-55. ' Merkler RC, Solish SB, Scherzer AL. Meningomyelocele and Hirschsprung disease: theoretical and clinical significance. Pediatrics 1985;76:299-300.","journal-title":"J Pediatr; 99: 443-55. ' Merkler RC, Solish SB, Scherzer AL. Meningomyelocele and Hirschsprung disease: theoretical and clinical significance"},{"key":"ref_7","first-page":"24","volume":"35","author":"Carachi, R.; Auldist, A.; Neuroblastoma, Chow C.W.; disease. Z Kinderchir, Hirschsprung's","year":"1982","unstructured":"Carachi R, Auldist A, Chow CW. Neuroblastoma and Hirschsprung's disease. Z Kinderchir 1982;35:24-5."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.3.204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:49:03Z","timestamp":1759690143000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.3.204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,3]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1988,3,1]]},"published-print":{"date-parts":[[1988,3]]}},"alternative-id":["10.1136\/jmg.25.3.204"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.3.204","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,3]]}}}