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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