Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.
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.
Eason
J
J
Department of Paediatrics, Royal Alexandra Hospital for Sick Children, Brighton, UK.
Hall
C M
CM
Trounce
J Q
JQ
D000328:Adult; D004392:Dwarfism / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007684:Kidney Tubules / Q000503:physiopathology*; D008297:Male; D008831:Microcephaly / Q000150:complications*; D011247:Pregnancy