Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.
case_report · Level V
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- Record sourced from PubMed, PMID 7783178.
- Also identified by PMC identifier 1050326.
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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.
Medical subject headings
- Dwarfism
- Kidney Tubules
- Microcephaly