Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult
  • Melissa van der Meijs
    Department of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The Netherlands
  • Dave Henri Schweitzer
    Department of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The Netherlands
  • Henk Boom
    Department of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The Netherlands

Keywords

22q11.2 deletion syndrome, DiGeorge syndrome, hypocalcaemia, hypoparathyroidism

Abstract

22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia, who was newly diagnosed with 22q11.2 deletion syndrome during an episode of hypocalcaemia. The syndrome is caused by developmental abnormalities of the embryonic pharyngeal arch system. Treatment of hypocalcaemia with oral calcium and vitamin D is usually sufficient.

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    Published: 2021-04-09
    Issue: 2021: Vol 8 No 4 (view)


    How to cite:
    1.
    van der Meijs ME, Schweitzer DH, Boom H. Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult. EJCRIM 2021;8 doi:10.12890/2021_002411.