The Johanson-Blizzard syndrome: a second report of full autopsy findings.
We report on a second patient with Johanson-Blizzard syndrome with full autopsy. The findings are similar to those of the one other available case, but gross or fine CNS maldevelopment was not present; although small by weight, the brain showed no cytoarchitectural disturbance. Normal intellectual development does occur in this syndrome and may relate to the variable effects of the deleterious gene on the developing CNS.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008286:Malabsorption Syndromes / Q000235:genetics / Q000473:pathology; D009666:Nose / Q000002:abnormalities; D010179:Pancreas / Q000002:abnormalities; D012535:Scalp / Q000002:abnormalities; D013577:Syndrome