{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:22:02Z","timestamp":1790976122148,"version":"4.1.0"},"reference-count":2,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,7]]},"abstract":"<jats:p>We describe three children with Hirschsprung's disease and microcephaly, two of whom also have an iris coloboma. Two of the children, one with a coloboma and one without, are from the same consanguineous pedigree. The third case is unrelated and was identified by the matching program of the London Dysmorphology Database. This is the first report of this combination of features which are considered to be secondary to defective neuronal migration. An autosomal recessive mode of inheritance is proposed.<\/jats:p>","DOI":"10.1136\/jmg.25.7.494","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"494-497","source":"Crossref","is-referenced-by-count":55,"title":["Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration."],"prefix":"10.1136","volume":"25","author":[{"given":"J A","family":"Hurst","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Markiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E M","family":"Brett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1988,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/ajmg.1320030302","article-title":"Association of Waardenburg syndrome and Hirschsprung megacolon","volume":"3","author":"Omenn, G.S.; McKusick, V.A.","year":"1979","unstructured":"Omenn GS, McKusick VA. Association of Waardenburg syndrome and Hirschsprung megacolon. Am J Med Genet 1979;3:217-23.","journal-title":"Am J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1136\/adc.58.11.932","article-title":"Waardenburg's syndrome associated with total aganglionosis","volume":"58","author":"Farndon, P.A.; Bianchi, A.","year":"1983","unstructured":"Farndon PA, Bianchi A. Waardenburg's syndrome associated with total aganglionosis. Arch Dis Child 1983;58:932-3.","journal-title":"Arch Dis Child"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.7.494","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:41:04Z","timestamp":1759725664000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.7.494"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,7]]},"references-count":2,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1988,7,1]]},"published-print":{"date-parts":[[1988,7]]}},"alternative-id":["10.1136\/jmg.25.7.494"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.7.494","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,7]]}}}