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Is geroderma osteodysplastica underdiagnosed?
  1. A G Hunter
  1. Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

    Abstract

    A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most marked over the extremities, and osteoporosis which may be associated with fractures and vertebral collapse.

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