Abstract
22q11.2 deletion syndrome is a fairly common neurogenetic syndrome, presenting with a wide range of clinical. It can manifest as facial dysmorphia, congenital heart defects, thymic hypoplasia responsible for a predominantly cellular immune deficiency, parathyroid and thyroid abnormalities, speech delay, growth retardation and neuropsychological disorders. We report the case of a patient with this deletion presenting with severe hypocalcaemic crises complicated by neurological impairment without cardiac or immune involvement.
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