title: Anophthalmia-Waardenburg syndrome: a report of three cases.
abstract: We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.
authors.affiliation: Genetic and Teratology Research Center, Cerrahpaşa Medical Faculty, University of Istanbul, Turkey.
authors.forename: Z
authors.initials: Z
authors.lastname: Suyugül
authors.forename: M
authors.initials: M
authors.lastname: Seven
authors.forename: S
authors.initials: S
authors.lastname: Hacihanefioğlu
authors.forename: A
authors.initials: A
authors.lastname: Kartal
authors.forename: N
authors.initials: N
authors.lastname: Suyugül
authors.forename: A
authors.initials: A
authors.lastname: Cenani
mesh_terms: D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009915:Orbit / Q000002:abnormalities / Q000000981:diagnostic imaging; D010375:Pedigree; D011859:Radiography; D015898:Tomography Scanners, X-Ray Computed; D014849:Waardenburg Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology