Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.
AUTOR(ES)
Eason, J
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050326Documentos Relacionados
- Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
- Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.
- Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.
- Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.
- Renal amyloidosis complicating sarcoidosis.
