title: Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening.
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.
  
  
  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.
authors.affiliation: 1University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Christina
authors.initials: C
authors.lastname: Pasick
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Christine
authors.initials: C
authors.lastname: Simbolon
authors.forename: David
authors.initials: D
authors.lastname: Low
authors.forename: Elaine
authors.initials: E
authors.lastname: Zackai
authors.forename: Oksana
authors.initials: O
authors.lastname: Jackson
mesh_terms: D004062:DiGeorge Syndrome / Q000150:complications* / Q000175:diagnosis; D005158:Facial Paralysis / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D005260:Female; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D010808:Physical Examination; D015995:Prevalence; D012189:Retrospective Studies
keywords: 22q11.2 deletion syndrome; asymmetric crying facies; congenital anomalies; screening—newborn