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

[22q11.2 deletion syndrome]

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 22 q 11 .2 deletion .A retrospective review of medical records on patients with a confirmed 22 q 11 .2 deletion was undertaken .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 22 q 11 .2 population .W e report a 14 % incidence of ACF in patients with a 22 q 11 .2 deletion , significantly higher than in the general population . We suggest , therefore , that newborns with ACF be referred for further screening for the 22 q 11 .2 deletion syndrome .

Diseases
Validation

Diseases presenting "congenital heart disease" symptom

22q11.2 deletion syndrome

child syndrome

cohen syndrome

congenital diaphragmatic hernia

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

wolf-hirschhorn syndrome

This symptom has already been validated