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Title of Journal: Am J Dis Child

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Abbravation: American Journal of Diseases of Children

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American Medical Association

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DOI

10.1016/j.apmr.2015.08.428

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0002-922X

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DiGeorges Syndrome in Monozygotic Twins Treatmen

Authors: John D Miller Blair M Bowker David E C Cole Harvey J Guyda
Publish Date: 1983/05/01
Volume: 137, Issue: 5, Pages: 438-440
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Abstract

• Monozygotic male twins with DiGeorges syndrome had facial dysmorphism cardiovascular abnormalities hypocalcemia and immunodeficiency however they showed differences in several aspects of this developmental complex An early gestational insult rather than a mutation may be one cause of this heterogeneous disorder One twin had clinically appreciable hypoparathyroidism and had received calcitriol since early infancy Despite close monitoring of therapy he experienced two episodes of unexpected and prolonged hypercalcemia Following the first episode he was eucalcemic for nine weeks without therapy attesting to the prolonged biological effects of calcitriol when used in the treatment of hypoparathyroidism


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References

citation title=Metabolic fate of administered 125dehydroxycholecalciferol in controls and patients with hypoparathyroidism citation author=Mawer EB Davies M Backhouse J et alLancet citation year=1976 citation volume=1 citation pages=12031206


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