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Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia

✍ Scribed by McLeod, D. Ross ;Hanley, David A. ;McArthur, Robert G. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
375 KB
Volume
32
Category
Article
ISSN
0148-7299

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✦ Synopsis


We describe a family with autosomal dominant hypoparathyroidism. The 3 affected individuals had no detectable serum parathyroid hormone on radioimmunoassay. The propositus presented with seizures and on CT scan had bilateral basal ganglion calcification and calcification in the frontal lobes. His similarly affected mother had even more intracerebral calcification. The latter manifestation has not been described previously in autosomal dominant hypoparathyroidism.