Abstract
22q11.2 Deletion Syndrome is the commonest microdeletion syndrome in humans and has a wide spectrum of clinical manifestations, such as craniofacial dysmorphism, airway malformations, heart disease, renal malformations, hypoparathyroidism, neurological and behavioral disorders, immunodeficiencies Residência Pediátrica; 2023: Ahead of Print DOI: 10.25060/residpediatr-2023-623 Nota aos leitores: pode haver informações pendentes, por se tratar de um artigo em “visualização pré-publicação”. and anomalies of the thymus. The broad phenotype spectrum makes the diagnosis more challenging, and an early identification allows not only the evaluation of comorbidities and interventions, but also adequate genetic counseling. Hypoparathyroidism manifested by symptomatic hypocalcemia is one of the clinical presentations of 22q11.2 Deletion Syndrome. This clinical case shows the diagnosis of 22q11.2 Deletion Syndrome in an 11-year-old child with symptomatic hypocalcemia and emphasizes the possibility of a late diagnosis of 22q11.2 Deletion Syndrome.
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