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.
LahatEHeymanEBarkayAGoldbergM. Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature. J Child Neurol. 2000;15:808-810.
2.
SapinSOMillerAABassHN. Neonatal asymmetric crying facies: a new look at an old problem. Clin Pediatr. 2005;44:109-119.
PapadatosCAlexiouDNicolopoulosDMikropoulosHHadzigeorgiouE. Congenital hypoplasia of the depressor anguli oris muscle: a genetically determined condition?Arch Dis Child. 1974;49:927-931.
5.
AlexiouDManolidisCPapaevangellouGNicolopoulosDPapadatosC. Frequency of other malformations in congenital hypoplasia of depressor anguli oris muscle syndrome. Arch Dis Child. 1976;51:891-893.
BonarBOwensR. Bilateral congenital facial paralysis: a review of the literature and a classification. Am J Dis Child. 1929;38:1256-1272.
8.
RenaultF. Facial electromyography in newborn and young infants with congenital facial weakness. Dev Med Child Neurol. 2001;43:421-427.
9.
UlualpSDeskinR. Congenital unilateral hypoplasia of depressor anguli oris. Case Rep Pediatr. 2012;2012:507248.
10.
CaylerG. Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child. 1969;44:69-75.
11.
HarperW. Some observations on facial paresis in the newborn infant: etiology and incidence. Pediatrics. 1951;8:494-497.
12.
MillerMHallJ. Familial asymmetric crying facies: its occurrence secondary to hypoplasia of the anguli oris depressor muscles. Am J Dis Child. 1979;133:743-746.
13.
SilengoMBellGBiagioliM. Asymmetric crying facies with microcephaly and mental retardation: an autosomal dominant syndrome with variable expressivity. Clin Genet. 1986;30:481-484.
14.
HomlichLMedgyesiS. Congenital hereditary paresis of ramus marginalis nervus facialis in five generations. Ann Plast Surg. 1994;33:96-99.
15.
KaragolBZencirogluA. Asymmetric crying facies with a couple of primary mandibular central incisor and 22q11 deletion. J Clin Pediatr Dent. 2010;34:343-346.
16.
BawleEVConardJVan DykeDLCzarneckiPDriscollDA. Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletions, including a familial case. Am J Med Genet. 1998;79:406-410.
17.
BassettAMcDonald-McGinnMDevriendtK. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159:332-339.
18.
BassettAChowEWeksbergLBrzustowiczL.Schizophrenia and genetics: new insights. Curr Psychiatry Rep. 2002;4:307-314.
19.
McDonald-McGinnDMMinugh-PurvisNKirschnerR. The 22q11.2 deletion in African-American patients: an underdiagnosed population. Am J Med Genet. 2005;134:242-246.
20.
ScamblerPKellyDLindsayE. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet. 1992;339:1138-1139.
Kitsiou-TzeliSKolialexiAFryssiraH. Detection of 22q11.2 deletion among 139 patients with DiGeorge/velocardiofacial syndrome features. In Vivo. 2004;18:603-608.
24.
MotzkinBMarionRGoldbergRShprintzenRSaengerP. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr. 1993;123:406-410.
25.
MarketMSarzottiMOzakiD. Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood. 2003;102:1121-1130.
26.
BerendSSpikesAKashorkC. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DeGeorge syndrome II loci. Am J Med Genet. 2000;91:313-317.
27.
BartschONemeckovaMKocarekE. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14 and clinical reports on the proximal 22q11 deletion. Am J Med Genet. 2003;117A:1-5.
28.
DriscollDSalvinJSellingerB. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet. 1993;30:813-817.
29.
DriscollDSpinnerNBudarfM. Deletions and microdeletions of 22q11.2 in velocardiofacial syndrome. Am J Med Genet. 1992;44:261-268.
30.
HouJWangJTsaiWChouCWangT. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects. J Formos Med Assoc. 1997;96:419-423.
