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.
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.
Authors: Erik Boot; Nancy J Butcher; Thérèse A M J van Amelsvoort; Anthony E Lang; Connie Marras; Margarita Pondal; Danielle M Andrade; Wai Lun Alan Fung; Anne S Bassett Journal: Am J Med Genet A Date: 2015-02-13 Impact factor: 2.802
Authors: Cynthia B Solot; Debbie Sell; Anne Mayne; Adriane L Baylis; Christina Persson; Oksana Jackson; Donna M McDonald-McGinn Journal: Am J Speech Lang Pathol Date: 2019-07-22 Impact factor: 4.018
Authors: Naglaa M Kamal; Maher Mr Omair; Ruwayd Attar; Salma As Abosabie; Nawras M Asiri; Laila M Sherief; Mortada El-Shabrawi Journal: Clin Med Insights Case Rep Date: 2022-03-28