Unique Considerations in the Treatment of Psychosis in DiGeorge Syndrome: A Case Report
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DOI: 10.1017/s1092852923001748
Abstract: Abstract Introduction DiGeorge Syndrome is a microdeletion of chromosome 22q11.2 and is most commonly de novo. Manifestations of DiGeorge are wide-spread including cardiac malformations, palatal abnormalities, intellectual disability, hypocalcemia, dysmorphic facial features, and psychiatric disorders… read more here.
Keywords: psychosis digeorge; digeorge syndrome; digeorge; treatment ... See more keywords
DiGeorge syndrome: consider the diagnosis
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DOI: 10.1136/bcr-2021-245164
Abstract: DiGeorge syndrome (DGS) is caused by a chromosomal microdeletion at 22q11.2 that results in impaired development of the pharyngeal pouch system. Patients with DGS may have developmental abnormalities of craniofacial structures, parathyroid glands, thymus and… read more here.
Keywords: digeorge syndrome; digeorge; dgs; consider diagnosis ... See more keywords
Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus
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DOI: 10.1136/bcr-2022-250350
Abstract: Genetic causes of hypocalcaemia can be overlooked in patients who present without apparent syndromic features. One relatively common but under-recognised genetic disorder is DiGeorge syndrome, which is often diagnosed in childhood but rarely in adulthood.… read more here.
Keywords: digeorge syndrome; digeorge; diagnosis; hypocalcaemia ... See more keywords