Asymmetric Crying Facies: Cardiofacial Syndrome, Urofacial Syndrome, and Microtia

Bhaswati Ghoshal, Soumyadip Paria, Kousambi Basu

Abstract

Asymmetric crying facies (ACF) is a condition in which a neonate’s or infant’s face appears symmetric at rest but asymmetric while crying. It is a rare congenital disorder resulting from unilateral hypoplasia of the depressor angulioris muscle, agenesis of the depressor angulioris muscle, or, rarely, from the agenesis of the depressor labii inferioris. ACF must be differentiated from unilateral facial nerve palsy, which may occur due to instrument-assisted childbirth. In ACF, forehead wrinkling, eye closure, and the nasolabial fold depth are normal and symmetric. The incidence of ACF is 0.2% to 0.6%, with a male predominance (male:female = 2:1); the asymmetry is more common on the left side.

Here, we report 6 cases of ACF: in 5 male and 1 female neonate. Two neonates had heart disease: total anomalous pulmonary venous return (of mixed variety, with both cardiac and supracardiac involvement) and perimembranous ventricular septal defect. ACF with congenital heart disease is known as cardiofacial syndrome, and is seen in 44% of the cases. Two neonates had hydronephrosis with vesicoureteral reflux. ACF with genitourinary abnormalities is known as urofacial syndrome, and it is seen in about 24% of ACF cases. One neonate had one-sided grade 2 microtia with hearing loss. Defects in the head and neck region are seen in about 48% of ACF cases. One neonate had no abnormalities in the cardiovascular or genitourinary systems but had ACF. In this series, all neonates had muscle weakness in the angle of the mouth, on the right side.

A 22q11.2 deletion is often associated with ACF, with significant systemic disease. In most of the cases, dysmorphic changes represent only a cosmetic defect, not requiring any correction.