Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia

Autor:	D. Ross McLeod, James F. Reynolds, David A. Hanley, Robert G. McArthur, John M. Opitz
Rok vydání:	1989
Předmět:	Adult Male Adolescent Hypoparathyroidism Parathyroid hormone Basal ganglia calcification Basal Ganglia Basal ganglia Medicine Humans Autosomal Dominant Hypoparathyroidism Child Genetics (clinical) Genes Dominant Brain Diseases business.industry Calcinosis Radioimmunoassay Anatomy medicine.disease Frontal Lobe Pedigree Female business Intracranial calcification Tomography X-Ray Computed Calcification
Zdroj:	American journal of medical genetics. 32(1)
ISSN:	0148-7299
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad9a5ddd3fac96e245d4ec0213439cd3 https://pubmed.ncbi.nlm.nih.gov/2705481 Zobrazit plný text záznamu Plný text