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Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.
  1. J Eason,
  2. C M Hall,
  3. J Q Trounce
  1. Department of Paediatrics, Royal Alexandra Hospital for Sick Children, Brighton, UK.


    We describe a male infant with phenotypic and radiological features of microcephalic osteodysplastic primordial dwarfism type I/III. He showed severe osteoporosis and biochemical derangement owing to renal tubular leakage, which has not previously been reported in this condition. He died aged 5 months.

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