Congenital asymmetric crying facies syndrome: A case report.

BACKGROUND

Congenital asymmetric crying facies (ACF) in newborns is a rare condition usually caused by unilateral agenesis or hypoplasia of the depressor anguli oris muscle on one side of the mouth (symmetric face at rest and asymmetric face while crying), which is often accompanied with other malformations.

METHODS

We present a case of a female newborn with nonconsanguineous ethnic Han Chinese parents who presented with 37 minutes of breathlessness and asymmetrical face when crying. A thorough physical examination had been conducted. The patient was diagnosed with aspiration pneumonia and congenital ACF syndrome, accompanied with congenital bilateral anophthalmia, left homolateral auricle dysplasia, malformation in the left-hand thumb, patent ductus arteriosus (PDA), and patent foramen ovale (PFO) and tracheoesophageal fistula. The patient's mother underwent routine fetal sonogram at 25 weeks gestation, which showed major anatomical anomalies in the eyes of the fetus. The mother chose to pregnancy until vaginal delivery. This case is unique because congenital bilateral anophthalmia has not been reported in such patients before.

CONCLUSIONS

Careful physical examination of newborns and genetic testing are important for early diagnosis of neonatal asymmetric crying facies (NACF), especially if ACF is present. Early determination of the etiology and future screenings are very important for the management of this condition. The lower lip on the affected side looks thinner because of the lack of the muscle agenesis, so the use of ultrasound to observe facial muscles and electrodiagnostic testing could be helpful for the differential diagnosis of NACF from congenital facial nerve dysplasia.