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

van der Meijs, Melissa Elise and Schweitzer, Dave Henri and Boom, Henk (2021) Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult. European Journal of Case Reports in Internal Medicine, 8 (4). pp. 1-4. ISSN ISSN: 2284-2594

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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.

Item Type: Article
Uncontrolled Keywords: 22q11.2 deletion syndrome, DiGeorge syndrome, hypocalcaemia, hypoparathyroidism
Subjects: 600 Tecnologia - Scienze applicate
600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici)
600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale)
Depositing User: Marina Spanti
Date Deposited: 21 Dec 2021 15:06
Last Modified: 21 Dec 2021 15:06
URI: http://eprints.bice.rm.cnr.it/id/eprint/21230

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