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The major manifestations are telecanthus (the only constant anomaly in all cases), prominent nasal root, round or square tip of nose, hypoplastic alae, smooth philtrum, bushy eyebrows with synophrys, sensorineural deafness, heterochromia or hypoisochromia iridis, hypopigmented ocular fundus, white forelock, premature greying, and hypopigmented skin lesions. These and other aspects of the syndrome, associated findings, frequency, genetic heterogeneity, pathogenesis, animal models, and gene linkage and mapping are reviewed briefly.<\/jats:p>","DOI":"10.1002\/ajmg.1320400113","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:12:40Z","timestamp":1118549560000},"page":"65-74","source":"Crossref","is-referenced-by-count":40,"title":["Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review"],"prefix":"10.1002","volume":"40","author":[{"given":"Elias O.","family":"Da\u2010Silva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80267-4"},{"key":"e_1_2_1_3_1","first-page":"307","article-title":"Une famille suisse atteinte du syndrome de Klein\u2010Waardenburg associ\u00e9 \u00e0 une hyperk\u00e9ratose palmo\u2010plantaire et \u00e0 une oligophr\u00e9nie grave","volume":"18","author":"Amini\u2010Elihou S","year":"1970","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_4_1","first-page":"75","article-title":"S\u00edndrome de Waardenburg: estudo de uma fam\u00edlia","volume":"63","author":"Antunes ERG","year":"1988","journal-title":"An Bras Dermatol"},{"key":"e_1_2_1_5_1","volume-title":"Genetic heterogeneity in the Waardenburg syndrome","author":"Arias S","year":"1971"},{"issue":"4","key":"e_1_2_1_5_2","first-page":"87","author":"National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/BF00273330","article-title":"Possible linkage between the ABO locus and Waardenburg syndrome type I","volume":"27","author":"Arias S","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_1_7_1","first-page":"87","article-title":"A pedigree of binocular heterochromia iridis associated with other anomalies (Waardenburg\u2010Klein syndrome)","volume":"14","author":"Basile R","year":"1965","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_8_1","first-page":"788","article-title":"Le syndrome de Waardenburg (\u00e0 propos de 5 observations)","volume":"13","author":"Boniface L","year":"1966","journal-title":"Ann P\u00e9diatr"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1542\/peds.63.5.803","article-title":"Hirschsprung's disease and Waardenburg's syndrome","volume":"63","author":"Branski D","year":"1979","journal-title":"Pediatrics"},{"key":"e_1_2_1_10_1","first-page":"144","article-title":"Syndrome de Waardenburg\u2010Klein avec fistules lacrymales borgnes","volume":"81","author":"Calmettes L","year":"1968","journal-title":"Bull Mem Soc Fr Ophtalmol"},{"key":"e_1_2_1_11_1","first-page":"159","article-title":"S\u00edndrome de Waardenburg. 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