Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult
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 deletio...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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SMC MEDIA SRL
2021-04-01
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| Series: | European Journal of Case Reports in Internal Medicine |
| Subjects: | |
| Online Access: | https://www.ejcrim.com/index.php/EJCRIM/article/view/2411 |
| _version_ | 1828898722893791232 |
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| author | Melissa Elise van der Meijs Dave Henri Schweitzer Henk Boom |
| author_facet | Melissa Elise van der Meijs Dave Henri Schweitzer Henk Boom |
| author_sort | Melissa Elise van der Meijs |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T15:20:14Z |
| format | Article |
| id | doaj.art-57fdc626783141348f5cef19938049db |
| institution | Directory Open Access Journal |
| issn | 2284-2594 |
| language | English |
| last_indexed | 2024-12-13T15:20:14Z |
| publishDate | 2021-04-01 |
| publisher | SMC MEDIA SRL |
| record_format | Article |
| series | European Journal of Case Reports in Internal Medicine |
| spelling | doaj.art-57fdc626783141348f5cef19938049db2022-12-21T23:40:35ZengSMC MEDIA SRLEuropean Journal of Case Reports in Internal Medicine2284-25942021-04-0110.12890/2021_0024112027Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an AdultMelissa Elise van der Meijs0Dave Henri Schweitzer1Henk Boom2Department of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The NetherlandsDepartment of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The NetherlandsDepartment of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The Netherlands22q11.2 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.https://www.ejcrim.com/index.php/EJCRIM/article/view/241122q11.2 deletion syndrome22q11.2 deletion syndrome22q11.2 deletion syndromedigeorge syndromedigeorge syndromedigeorge syndromehypocalcaemiahypocalcaemiahypocalcaemiahypoparathyroidismhypoparathyroidismhypoparathyroidism |
| spellingShingle | Melissa Elise van der Meijs Dave Henri Schweitzer Henk Boom Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult European Journal of Case Reports in Internal Medicine 22q11.2 deletion syndrome 22q11.2 deletion syndrome 22q11.2 deletion syndrome digeorge syndrome digeorge syndrome digeorge syndrome hypocalcaemia hypocalcaemia hypocalcaemia hypoparathyroidism hypoparathyroidism hypoparathyroidism |
| title | Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult |
| title_full | Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult |
| title_fullStr | Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult |
| title_full_unstemmed | Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult |
| title_short | Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult |
| title_sort | palatoschisis schizophrenia and hypocalcaemia phenotypic expression of 22q11 2 deletion syndrome digeorge syndrome in an adult |
| topic | 22q11.2 deletion syndrome 22q11.2 deletion syndrome 22q11.2 deletion syndrome digeorge syndrome digeorge syndrome digeorge syndrome hypocalcaemia hypocalcaemia hypocalcaemia hypoparathyroidism hypoparathyroidism hypoparathyroidism |
| url | https://www.ejcrim.com/index.php/EJCRIM/article/view/2411 |
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