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  • Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.

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Research Article
Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.
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  1. K D MacDermot,
  2. S C Roth,
  3. C Hall,
  4. R M Winter
  1. Kennedy Galton Centre, Harperbury Hospital, London.

    Abstract

    A family is presented with short stature, femoral epiphyseal dysplasia, mild vertebral changes, and sensorineural deafness inherited as an autosomal dominant trait. Myopia and retinal detachment presenting in adult life were also present in some affected members. We suggest that this disorder may be a distinct entity within the spondyloepiphyseal dysplasia group of disorders.

    http://dx.doi.org/10.1136/jmg.24.10.602

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