title: Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome.
abstract: Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome: Achromatopsia or rod monochromatism is the complete absence of color discrimination, with an estimated frequency of 1 in 100,000. To date the McKusick Catalogue includes more than 10 entities related to Achromatopsia. This paper describes four Mexican sibs with a stationary rod monochromatism, associated with long fingers and toes, hypothenar and thenar hypoplasia and pes planus, suggesting a new genetic entity probably inherited in an autosomal recessive mode.
authors.affiliation: Departamento de Immunobiología Molecular, Centro de Investigación, Biomédica, Facultad de Medicina Universidad Autónoma de Coahuila, Torreón, Coahuila, México.
authors.forename: J E
authors.initials: JE
authors.lastname: García-Ortiz
authors.forename: D
authors.initials: D
authors.lastname: García-Cruz
authors.forename: R
authors.initials: R
authors.lastname: Mendoza-Topete
authors.forename: H
authors.initials: H
authors.lastname: Quiroz-Mercado
authors.forename: M O
authors.initials: MO
authors.lastname: García-Cruz
authors.forename: J
authors.initials: J
authors.lastname: Sánchez-Corona
mesh_terms: D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002869:Chromosome Aberrations; D003117:Color Vision Defects / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D017948:Retinal Rod Photoreceptor Cells / Q000503:physiopathology; D013577:Syndrome