Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.
A brother and sister, children of normal parents are described. They had retinitis pigmentosa, causing near-blindness as a result of very narrow fields of vision, associated with metaphyseal chondrodysplasia and marked shortening of the metacarpals and terminal phalanges. Autosomal recessive inheritance is suggested with a common biochemical cause for all these defects. This apparently new association of retinitis pigmentosa with a systemic bone dysplasia emphasises that this not uncommon clinical diagnosis has a variety of different possible causes.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome