Familial hypocalcemia, latent tetany and calcification of the basal ganglia: Report of a kindred

A syndrome of calcification of the basal ganglia and hypocalcemia not conforming to any specific diagnostic pattern was found in three generations of the same family. One subject presented symptoms and signs similar to those of idiopathic hypoparathyroidism, two had familial calcification of the bas...

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Published inThe American journal of medicine Vol. 30; no. 4; pp. 518 - 528
Main Authors Nichols, Frederick L., Holdsworth, Donald E., Reinfrank, Ralph F.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.01.1961
Subjects
Basal Ganglia
Calcification, Physiologic - genetics
Calcinosis
Calcium - blood
Disease
Ganglia
Humans
Hypercalciuria
Hypocalcemia
Hypoparathyroidism
Old Medline
Tetany - genetics
CALCIUM/blood
CALCIFICATION/genetics
GANGLIA, BASAL/diseases
TETANY/genetics
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Abstract A syndrome of calcification of the basal ganglia and hypocalcemia not conforming to any specific diagnostic pattern was found in three generations of the same family. One subject presented symptoms and signs similar to those of idiopathic hypoparathyroidism, two had familial calcification of the basal ganglia without serum calcium abnormalities, six presented a clinical picture suggestive but not diagnostic of pseudohypoparathyroidism. The relationship of this syndrome to other states of familial ectopic calcification with or without hypocalcemia is discussed.
AbstractList A syndrome of calcification of the basal ganglia and hypocalcemia not conforming to any specific diagnostic pattern was found in three generations of the same family. One subject presented symptoms and signs similar to those of idiopathic hypoparathyroidism, two had familial calcification of the basal ganglia without serum calcium abnormalities, six presented a clinical picture suggestive but not diagnostic of pseudohypoparathyroidism. The relationship of this syndrome to other states of familial ectopic calcification with or without hypocalcemia is discussed.
Author Nichols, Frederick L.
Holdsworth, Donald E.
Reinfrank, Ralph F.
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TETANY/genetics
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References Axelrod (BIB7) 1959; 19
Mackler, Fouts, Birsner (BIB2) 1952; 77
Palubinskas, Davies (BIB3) 1959; 82
Kyle, Schaaf, Canary (BIB5) 1958; 24
Litvak, Moldawer, Forbes, Henneman (BIB4) 1958; 18
Tanz (BIB6) 1960; 239
Bronsky, Kushner, Dubin, Snapper (BIB1) 1958; 37
References_xml – volume: 24
  start-page: 240
  year: 1958
  ident: BIB5
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  publication-title: Am. J. Med.
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– volume: 19
  start-page: 590
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  year: 1960
  ident: BIB6
  article-title: Pseudo-pseudohypoparathyroidism
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– volume: 77
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  publication-title: California Med.
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  ident: BIB1
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  publication-title: Medicine
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    fullname: Snapper
– volume: 18
  start-page: 246
  year: 1958
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  article-title: Hypocalcemic hypercalciuria during vitamin D and dihydrotachysterol therapy of hypoparathyroidism
  publication-title: J. Clin. Endocrinol. & Metab.
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StartPage 518
SubjectTerms Basal Ganglia
Calcification, Physiologic - genetics
Calcinosis
Calcium - blood
Disease
Ganglia
Humans
Hypercalciuria
Hypocalcemia
Hypoparathyroidism
Old Medline
Tetany - genetics
Title Familial hypocalcemia, latent tetany and calcification of the basal ganglia: Report of a kindred
URI https://dx.doi.org/10.1016/0002-9343(61)90076-6
https://www.ncbi.nlm.nih.gov/pubmed/13728765
https://search.proquest.com/docview/82763244
Volume 30
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