ArticleEuropean journal of case reports in internal medicine2021
Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult.
Article in European journal of case reports in internal medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 3 citations in OpenAlex.
- Iron and Other Metal Ions in Human Health and Disease.MedComm · 2026Review
- The Immunological Role of Vitamin D in Primary Immunodeficiencies: A Narrative Review of the Current Literature.Biomedicines · 2026Review
- Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.Internal medicine journal · 2024Review
- Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature.BMC endocrine disorders · 2022Review
- Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus.BMJ case reports · 2022Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
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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. LEARNING POINTS: 22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism.The syndrome has a variable phenotypic expression and can therefore remain unrecognised in adult patients with mild symptoms.22q11.2 deletion syndrome should be borne in mind, particularly as regards adult psychiatric patients.
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