Article Text

PDF

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.

    Abstract

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.