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This observation may represent (1) the BBB syndrome with coincidentally segregating coloboma; (2) discovery of coloboma as a new but rare component manifestation of the BBB syndrome; or (3) a new autosomal dominant pleiotropic syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320080107","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:41:32Z","timestamp":1118511692000},"page":"53-57","source":"Crossref","is-referenced-by-count":10,"title":["Coloboma\u2010hypospadias"],"prefix":"10.1002","volume":"8","author":[{"given":"Fahed","family":"Halal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarina","family":"Farsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"293","volume-title":"Clinical Genetics","author":"Sorsby A","year":"1973"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004397-196800840-00004"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.58.11.917"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.3.289"},{"key":"e_1_2_1_6_2","series-title":"Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010linked Phenotypes, No. 12040","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1978"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-195910000-00006"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1979.tb05060.x"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.8.2.153"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb00636.x"},{"issue":"6","key":"e_1_2_1_11_2","first-page":"109","article-title":"Bilateral microcornea, coloboma, short stature and other skeletal anomalies: A new hereditary syndrome","author":"Dinno ND","year":"1976","journal-title":"BD:OAS"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.1.76"},{"issue":"5","key":"e_1_2_1_13_2","first-page":"189","article-title":"Congenital contractural arachnodactyly and intraocular colobomas","author":"Bard LA","year":"1979","journal-title":"BD:OAS"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1977.02120210071015"},{"key":"e_1_2_1_15_2","series-title":"BD:OAS","first-page":"86","volume-title":"The Clinical Delineation of Birth Defects. 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