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An adult female with spondyloepiphyseal dysplasia tarda
  1. J M Connor*,
  2. D A P Evans,
  3. I B Sardharwalla
  1. 1Nuffield Unit of Medical Genetics, Department of Medicine, University of Liverpool, PO Box 147, Liverpool L69 3BX.


    We report a sporadic adult female with a distinctive variety of spondyloepiphyseal dysplasia tarda characterised by universal platyspondyly, short metacarpals, short metatarsals, genu valgum, mild thoracic kyphoscoliosis, and severe generalised epiphyseal distortion with premature osteoarthrosis.

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    • * Present address: Division of Medical Genetics, Department of Medicine, The Johns Hopkins Hospital, Baltimore, Maryland 21205, USA.

    • Present address: Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester M27 1HA.