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Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.
  1. C I Phillips,
  2. R Wynne-Davies,
  3. N L Stokoe,
  4. M Newton

    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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