DOI: 10.12890/2021_002411

Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult

Authors

  • 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

melissavdmeijs@hotmail.com

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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References

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Published

2021-04-09

Issue

Vol. 8 No. 4 (2021)

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 [Internet]. 2021 Apr. 9 [cited 2026 Nov. 3];8(4). Available from: https://ejcrim.com/index.php/ejcrim/article/view/2411