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Clin Pediatr (Phila). 2013 Dec;52(12):1144-8. doi: 10.1177/0009922813506606. Epub 2013 Oct 17.

Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening.

Author information

1
1University of Pennsylvania, Philadelphia, PA, USA.

Abstract

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.

KEYWORDS:

22q11.2 deletion syndrome; asymmetric crying facies; congenital anomalies; screening—newborn

PMID:
24137031
DOI:
10.1177/0009922813506606
[Indexed for MEDLINE]

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