Congenital Retinal Nonattachment with Mental Retardation, Osteoporosis, and Hypotonia
Congenital Retinal Nonattachment with Mental Retardation, Osteoporosis, and Hypotonia
General: Autosomal recessive; well-demarcated entity; affects both males and females.
Ocular: Retinoblastoma; retina nonattached.
Clinical: Mentally retarded; osteoporosis; hypotonia; ligamentous laxity; dwarfism; microcephaly.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
Warburg M. Heterogeneity of congenital retinal non-attachment falciform folds and retinal dysplasia: a guide to genetic counseling. Hum Hered 1976; 26:137-148.
General: Autosomal recessive; well-demarcated entity; affects both males and females.
Ocular: Retinoblastoma; retina nonattached.
Clinical: Mentally retarded; osteoporosis; hypotonia; ligamentous laxity; dwarfism; microcephaly.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
Warburg M. Heterogeneity of congenital retinal non-attachment falciform folds and retinal dysplasia: a guide to genetic counseling. Hum Hered 1976; 26:137-148.
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