{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T16:56:13Z","timestamp":1778777773892,"version":"3.51.4"},"reference-count":44,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A screening program to detect Waardenburg syndrome (WS) conducted between 2002 and 2005, among 1,763 deaf individuals throughout Columbia identified 95 affected individuals belonging to 95 families, giving a frequency of 5.38% of WS among the institutionalized deaf population. We confirmed the clinical diagnosis of WS in the 95 propositi and, through the family evaluation, we also identified 45 non\u2010institutionalized affected relatives. Audiologic, ophthalmologic, and genetic studies were performed to confirm the diagnosis. Following the classification of the WS consortium, based on the Waardenburg Index (WI), to define the type of WS. We classified 62.1% of the propositi as WS2 and 37.9% as WS1. We present here the results of the study of clinical manifestations, analyzing the presence, severity, and symmetry of clinical findings among this affected population. Overall, among the 95 propositi, in addition to sensorineural deafness in all, the most frequent features were broad nasal root (58.9%), a first degree relative affected (37.9%), heterochromia irides (36.8%), skin hypopigmentation (31.6%), white forelock (28.0%), intense blue iris (27.4%), synophrys (12.6%), premature graying (10.5%), ptosis of the eyelids (9.5%), and hypoplasia alae nasi (1.1%). The majority of individuals had normal psychomotor development (87%), while the remaining 13% had developmental delay. Among the latter, 9.4% corresponded to WS2 and 3.6% to WS1. Our data confirm an interesting inter\u2010 and intrafamilial variability in the phenotypic manifestations as well as extremely variable expression. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32189","type":"journal-article","created":{"date-parts":[[2008,2,2]],"date-time":"2008-02-02T00:46:22Z","timestamp":1201913182000},"page":"1026-1031","source":"Crossref","is-referenced-by-count":36,"title":["Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability"],"prefix":"10.1002","volume":"146A","author":[{"given":"Marta L.","family":"Tamayo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Gelvez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Florez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara","family":"Varon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Medina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime E.","family":"Bernal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,2]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"87","article-title":"Genetic heterogeneity in the Waardenburg syndrome","author":"Arias S","year":"1971","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_6_3_1","first-page":"103","article-title":"Apparent non\u2010penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum","volume":"26","author":"Arias S","year":"1978","journal-title":"J Genet Hum"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.4.312"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/355637a0"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580205"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1978.03910060027006"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(60)80159-X"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-442"},{"key":"e_1_2_6_10_1","first-page":"902","article-title":"Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium","volume":"50","author":"Farrer LA","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_11_1","first-page":"187","article-title":"Estudio epidemiologico del sindrome de Waardenburg en Colombia","volume":"37","author":"Gelvez N","year":"2002","journal-title":"Pediatria"},{"key":"e_1_2_6_12_1","volume-title":"Waardenburg syndrome in the Providencia island in Colombia: A new mutation of the MITF gene. 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