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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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DiGeorge's Syndrome in Monozygotic Twins: Treatment With Calcitriol

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 DiGeorge's 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 1,25-dehydroxycholecalciferol in controls and patients with hypoparathyroidism; citation_author=Mawer EB, Davies M, Backhouse J, et al;Lancet; citation_year=1976; citation_volume=1; citation_pages=1203-1206;


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