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Case Reports
. 1981 Feb;18(1):46-9.
doi: 10.1136/jmg.18.1.46.

Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister

C I Phillips, R Wynne-Davies, N L Stokoe, M Newton
Case Reports

Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister

C I Phillips et al. J Med Genet. 1981 Feb.

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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References

    1. Metabolism. 1966 Aug;15(8):687-93 - PubMed
    1. Birth Defects Orig Artic Ser. 1976;12(6):33-46 - PubMed
    1. J Nerv Ment Dis. 1952 Dec;116(6):1046-50 - PubMed
    1. AMA Arch Ophthalmol. 1957 Aug;58(2):183-7 - PubMed

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