Ipsilateral hemifacial microsomia with dextrocardia and pulmonary hypoplasia: A case report

Hemifacial microsomia (HFM) is a rare congenital malformation characterized by a combination of various anomalies, including the face, ears, eyes, and vertebrae. Prenatal diagnosis for HFM is possible, and quite accurate ultrasound can detect obvious defects. The etiology is still unknown, although some hypotheses have been proposed, including gene mutation, chromosome anomaly, and environmental risk factors. However, there are few reports of pulmonary hypoplasia and dextrocardia in HFM.

A 2-year-old boy presented to the ear reconstruction department of our hospital complaining of deviation of the face to the right side and auricular anomaly. Physical examination revealed facial asymmetry, preauricular skin tags, and concha-type microtia with stricture of the external auditory canal on the right side. Head magnetic resonance imaging showed bilateral semicircular canal dysplasia and bilateral internal auditory canals stenosis. Audiometric examination showed bilateral severe sensorineural hearing loss. Chest radiography and computed tomography showed dextrocardia and right pulmonary hypoplasia.

This case presented a rare finding and an unusual association of 3 malformations, ipsilateral HFM, pulmonary agenesis, and dextrocardia.