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首页> 外文期刊>Clinical Pediatrics >Asymmetric crying facies in the 22q11.2 deletion syndrome: Implications for future screening
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Asymmetric crying facies in the 22q11.2 deletion syndrome: Implications for future screening

机译：22q11.2缺失综合征中的不对称哭泣相：对未来筛查的意义

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Objective. Asymmetric crying facies (ACF) is congenital hypoplasia of the depressor anguli oris muscle characterized by asymmetry of lower lip depression during crying. This has an overall incidence of 0.6%. This study determines the incidence of ACF in a large population of patients with 22q11.2 deletion. Patients and Methods. A retrospective review of medical records on patients with a confirmed 22q11.2 deletion was undertaken. Results. A total of 836 records were reviewed. Of these, 117 (14%) were noted to have ACF on physical examination. Within this latter group, palatal anomalies were common (77%), as was congenital heart disease (78%); however, these numbers did not differ significantly from their known prevalence in the 22q11.2 population. Conclusions. We report a 14% incidence of ACF in patients with a 22q11.2 deletion, significantly higher than in the general population. We suggest, therefore, that newborns with ACF be referred for further screening for the 22q11.2 deletion syndrome.
机译：目的。不对称的哭泣相（ACF）是先天性下垂小腿肌肉发育不全，特征是哭泣时下唇凹陷不对称。总发生率为0.6％。这项研究确定了22q11.2缺失的大量患者中ACF的发生率。患者和方法。对确诊为22q11.2缺失的患者的病历进行回顾性审查。结果。共审查了836条记录。在这些人中，有117人（14％）的身体检查发现患有ACF。在后一组中，pa异常常见（77％），先天性心脏病（78％）也很常见。但是，这些数字与22q11.2人口中的已知患病率没有显着差异。结论我们报道22q11.2缺失患者中ACF的发生率为14％，明显高于一般人群。因此，我们建议将ACF新生儿转诊以进一步筛查22q11.2缺失综合征。

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