Clinical pediatrics · 2013
Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening.
СтатьяНазвание и аннотация: Перевод в очереди
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Pasick Christina, McDonald-McGinn Donna M, Simbolon Christine, Low David, Zackai Elaine, Jackson Oksana
Аннотация
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.
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.