Nephrosis and disturbances of neuronal migration in male siblings--a new hereditary disorder?
Two male siblings (a boy aged 2 years 10 months at death and a male fetus aborted in gestational week 22) showed similar brain and kidney malformations, comprising paraventricular heterotopias, central canal abnormalities (including hydrocephalus in the boy), and glomerular kidney disease with proteinuria. There were no known hereditary diseases in the families of the parents, and there was one healthy sibling of either sex. The malformations thus seem to be hereditary in an autosomal or possibly X linked recessive fashion.
D002551:Cerebral Ventricle Neoplasms / Q000235:genetics* / Q000473:pathology; D002828:Choristoma / Q000235:genetics* / Q000473:pathology; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000648:ultrastructure; D008297:Male; D009401:Nephrosis / Q000235:genetics* / Q000473:pathology; D013116:Spinal Cord / Q000002:abnormalities*; D013577:Syndrome; D014960:X Chromosome