{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:05:07Z","timestamp":1791389107067,"version":"4.3.3"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3787,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,1,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria for WS Type II, 81 individuals from 21 families with Type II WS were personally studied, and compared with 60 personally studied patients from 8 families with Type I and 253 cases of WS (Type I or II) from the literature.<\/jats:p><jats:p>Sensorineural hearing loss (77%) and heterochromia iridum (47%) were the two most important diagnostic indicators for WS Type II. Both were more common in Type II than in Type I. Other clinical manifestations, such as white forelock and skin patches, were more frequent in Type I. We estimate the frequency of phenotypic traits and propose diagnostic criteria for WS Type II. In practice, a diagnosis of WS Type II can be made with confidence given a family history of congenital hearing loss and pigmentary disorders, where individuals have been accurately measured for ocular distances to exclude dystopia canthorum. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550123","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:53:19Z","timestamp":1118512399000},"page":"95-100","source":"Crossref","is-referenced-by-count":142,"title":["Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria"],"prefix":"10.1002","volume":"55","author":[{"given":"Xue\u2010Zhong","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie E.","family":"Newton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew P.","family":"Read","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1962.tb07838.x"},{"key":"e_1_2_1_3_1","first-page":"87","article-title":"Genetic Heterogeneity in the Waardenburg Syndrome For the National Foundation\u2010March of Dimes","volume":"7","author":"Arias S","year":"1971","journal-title":"BD: OAS"},{"key":"e_1_2_1_4_1","first-page":"103","article-title":"Apparent non\u2010penetrance for dystopia canthorum in Waardenburg syndrome type I, with some hints on diagnosis of dystopia canthorum","volume":"26","author":"Arias S","year":"1978","journal-title":"J Genet Hum"},{"key":"e_1_2_1_5_1","first-page":"43","article-title":"Waardenburg syndrome: The analysis of a single family with WSI mutation showing linkage to RELP markers on chromosome 2q","volume":"48","author":"Asher JH","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/355637a0"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1978.03910060027006"},{"key":"e_1_2_1_8_1","first-page":"75","article-title":"Cochleo\u2010vestibular features in Waardenburg syndrome","volume":"3","author":"Bellotto R","year":"1985","journal-title":"Adv Audiol"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400113"},{"key":"e_1_2_1_10_1","first-page":"256","article-title":"Waardenburg syndrome in South Africa. Part I, an evaluation of the clinical findings in 11 families","volume":"66","author":"de Saxe M","year":"1984","journal-title":"S Afr Med J"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(60)80159-X"},{"key":"e_1_2_1_12_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_1_13_1","unstructured":"FarrerL ArnosKS AsherJ BaldwinCT DiehlSR FriedmanTB GreenbergJ GrundfastKM HothC LalwaniAK LandaB LevertonK MilunskyA MorellR NanceW NewtonVE RamesarR RaoVS ReynoldsJE San AgustinTB WilcoxER WinshipI ReadAP(1994): Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.Am J Hum Genet(in press)."},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100055420"},{"key":"e_1_2_1_15_1","first-page":"1017","article-title":"Assignment of WS1 locus to human 2q37 and possible homology between Waardenburg syndrome and the Splotch mouse","volume":"46","author":"Foy C","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.1.2.118"},{"key":"e_1_2_1_17_1","volume-title":"The Causes of Profound Deafness in Children","author":"Fraser GR","year":"1976"},{"key":"e_1_2_1_18_1","first-page":"8696","article-title":"Mutation of the KIT (mast\/stem cell growth factor receptor) proto\u2010oncogene in human piebaldism","volume":"58","author":"Giebel LB","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1966.03850010799005"},{"key":"e_1_2_1_20_1","first-page":"468","article-title":"Heterogeneity in Waardenburg syndrome","volume":"29","author":"Hageman MJ","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100111181"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-509"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03011.x"},{"key":"e_1_2_1_24_1","first-page":"1","article-title":"Vestibular function and additional findings in Waardenburg syndrome","volume":"229","author":"Marcus RE","year":"1968","journal-title":"Acta Otolaryngol Suppl (Stockh)"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992286500401210"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270322"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1017\/S002221510011196X"},{"key":"e_1_2_1_28_1","first-page":"1009","article-title":"Waardenburg's syndrome and heterochromia iridum in a deaf school population","volume":"90","author":"Partington MW","year":"1964","journal-title":"Can Med Assoc J"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1967.01600320032005"},{"key":"e_1_2_1_30_1","first-page":"579","article-title":"Waardenburgs syndrome in six generations of one family","volume":"109","author":"Rugel SJ","year":"1965","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/355635a0"},{"key":"e_1_2_1_32_1","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness","volume":"3","author":"Waardenburg PJ","year":"1951","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_33_1","first-page":"154","article-title":"Waardenburg syndrome","volume":"5","author":"Zhou S","year":"1990","journal-title":"J Clin Otolaryngol (China)"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320550123","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320550123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T19:08:49Z","timestamp":1698260929000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320550123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1,2]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,1,2]]}},"alternative-id":["10.1002\/ajmg.1320550123"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320550123","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1,2]]}}}