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May 1983

DiGeorge's Syndrome in Monozygotic Twins: Treatment With Calcitriol

Author Affiliations

From the Division of Pediatric Endocrinology, Montreal Children's Hospital and McGill University Research Institute, Montreal. Dr Miller is now with The Children's Hospital Research Foundation, Cincinnati. Dr Bowker is now with Montreal General Hospital. Dr Cole is now with The Izaak Walton Killam Hospital for Children, Halifax, Nova Scotia.

Am J Dis Child. 1983;137(5):438-440. doi:10.1001/archpedi.1983.02140310020004

• 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.

(Am J Dis Child 1983;137:438-440)

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