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Case Reports
. 1995 Mar;32(3):234-5.
doi: 10.1136/jmg.32.3.234.

Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism

J Eason  1 , C M Hall, J Q Trounce
Affiliations
Case Reports

Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism

J Eason et al. J Med Genet. 1995 Mar.

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.

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