22q11.2缺失综合征在症状性低钙儿童中的延迟诊断:1例报告

C. Rocha, Maisa Sohn, F. Moreschi, Daniel Almeida do Valle, Mara Santos, Vitor Palazzo
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引用次数: 0

摘要

22q11.2缺失综合征是人类最常见的微缺失综合征,具有广泛的临床表现,如颅面畸形、气道畸形、心脏病、肾脏畸形、甲状旁腺功能低下、神经和行为障碍、免疫缺陷Residência Pediátrica;2023:提前打印DOI: 10.25060/ residenpediatrics -2023-623 Nota aos leitores: pode haver informações pendentes, por se tratar de um artigo em“visualiza”。以及胸腺的异常。广泛的表型谱使诊断更具挑战性,早期识别不仅可以评估合并症和干预措施,还可以进行充分的遗传咨询。以症状性低钙为表现的甲状旁腺功能减退是22q11.2缺失综合征的临床表现之一。本临床病例显示了一名11岁症状性低钙儿童的22q11.2缺失综合征的诊断,并强调了22q11.2缺失综合征晚期诊断的可能性。
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DELAYED DIAGNOSIS OF 22Q11.2 DELETION SYNDROME IN A CHILD WITH SYMPTOMATIC HYPOCALCEMIA: CASE REPORT
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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