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Recently, the phenotypic spectrum has been expanded to include congenital muscular dystrophy. Two sibs with Walker\u2010Warburg syndrome are reported. One sib had congenital glaucoma and hydrocephalus. The other sib had hydrocephalus, microtia, absent auditory canals, and pale retinas, barely within the phenotypic spectrum of the disorder. Elevation of muscle enzymes was consistent with the diagnosis of Walker\u2010Warburg syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320370120","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:51:50Z","timestamp":1118548310000},"page":"87-91","source":"Crossref","is-referenced-by-count":12,"title":["Walker\u2010warburg syndrome with microtia and absent auditory canals"],"prefix":"10.1002","volume":"37","author":[{"given":"Ruth","family":"Gershoni\u2010Baruch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Polo","family":"Sujov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Braun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.70.10.742"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140417"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270306"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00356.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970060304"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220118"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320213"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1987.01060040090040"},{"key":"e_1_2_1_10_1","first-page":"991","volume-title":"Mendelian Inheritance in Man: Catalog of Autosomal Dominant, Autosomal Recessive and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1988"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1981.00510010092024"},{"key":"e_1_2_1_12_1","volume-title":"Recent Advances and New Syndromes","author":"Pagon RA","year":"1978"},{"issue":"6","key":"e_1_2_1_12_2","first-page":"232","article-title":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80181-4"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)76671-1"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80182-6"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.12.1531"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1978.03910050053013"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320370120","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320370120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T02:50:00Z","timestamp":1698029400000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320370120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,9]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1990,9]]}},"alternative-id":["10.1002\/ajmg.1320370120"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320370120","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,9]]}}}