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  • Title: Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.
    Author: Phillips CI, Wynne-Davies R, Stokoe NL, Newton M.
    Journal: J Med Genet; 1981 Feb; 18(1):46-9. PubMed ID: 7252997.
    Abstract:
    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.
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