医学
DiGeorge综合征
法洛四联症
儿科
小袋
基因检测
疾病
心室流出道
心脏病
内科学
心脏病学
重症监护医学
外科
精神科
作者
Ellery Altshuler,Arwa Saidi,Jeffrey R. Budd
出处
期刊:Case Reports
[BMJ]
日期:2022-02-01
卷期号:15 (2): e245164-e245164
被引量:1
标识
DOI:10.1136/bcr-2021-245164
摘要
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 cardiac outflow tract. Doctors have been routinely testing for DGS in newborns with conotruncal cardiac anomalies since the late 1990s; before then, however, they relied on complex diagnostic criteria and the disease was often missed. Adults born with conotruncal defects before the late 1990s may have undiagnosed DGS. We present one such case: a 35-year-old woman with a cardiac diagnosis of tetralogy of Fallot and unilateral absence of a pulmonary arter who was found to have DGS. Identifying DGS in adults is important both for disease management and genetic counselling. Our case emphasises the importance of screening for DGS in adults who were born with conotruncal cardiac abnormalities before widespread neonatal testing became common.
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