Pasick Christina, McDonald-McGinn Donna M, Simbolon Christine, Low David, Zackai Elaine, Jackson Oksana
1University of Pennsylvania, Philadelphia, PA, USA.
Clin Pediatr (Phila). 2013 Dec;52(12):1144-8. doi: 10.1177/0009922813506606. Epub 2013 Oct 17.
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.
A retrospective review of medical records on patients with a confirmed 22q11.2 deletion was undertaken.
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.
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.
不对称哭泣面容（ACF）是口降肌先天性发育不全，其特征为哭泣时下唇凹陷不对称。总体发病率为0.6%。本研究确定了一大群22q11.2缺失患者中ACF的发病率。
对确诊为22q11.2缺失的患者的病历进行回顾性研究。
共审查了836份记录。其中，117例（14%）在体格检查中被发现有ACF。在这后一组中，腭裂畸形很常见（77%），先天性心脏病也很常见（78%）；然而，这些数字与它们在22q11.2人群中的已知患病率没有显著差异。
我们报告22q11.2缺失患者中ACF的发病率为14%，显著高于一般人群。因此，我们建议对患有ACF的新生儿进行进一步筛查，以排查22q11.2缺失综合征。
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