Pulmonary Hypoplasia in a Newborn with Goldenhar Syndrome

Abstract

Figure. A, Facial asymmetry and ipsilateral ear anomalies. B, Chest radiograph showing nearly complete opacification of the left hemithorax, an ipsilateral mediastinal shift, an intact diaphragm, and vertebral anomalies. C, Chest computed tomography scan showing left lung hypoplasia and an ipsilateral cardiomediastinal shift. A female infant born to a 31-year-old mother (G2P2) by cesarean section at 35 weeks’ gestation was referred for facial asymmetry and facial paralysis (Figure, A). The parents are not relatives. The pregnancy was complicated by polyhydramnios with no known intrauterine teratogenic exposure. On physical examination, the infant appeared alert, active, and well. Her weight was 2280 g (50th percentile), length was 44 cm (10th to 50th percentile), and head circumference was 33 cm (50th percentile). The following dysmorphic features were noted: left facial hypoplasia, ipsilateral ear anomalies (i.e., malformed, low-set ear; microtia; preauricular tags; external auditory canal atresia), mandibular hypoplasia, and hypertelorism. A chest radiograph revealed nearly complete opacification of the left hemithorax, an ipsilateral mediastinal shift, an intact diaphragm, and vertebral anomalies (Figure, B). A chest computed tomography scan showed left lung hypoplasia and an ipsilateral cardiomediastinal shift (Figure, C). An echocardiogram demonstrated patent ductus arteriosus. Chromosomal analysis revealed a normal female karyotype. Goldenhar syndrome (also known as oculoauriculovertebral spectrum or OAV syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible, usually on one side of the body. The term is sometimes used interchangeably with hemifacial microsomia, although the latter is usually reserved for cases without internal organ/vertebrae involvement. Cardiac, renal, skeletal, and central nervous system involvement have been reported in Goldenhar syndrome. The association of pulmonary agenesis with facial microsomia also has been described in a few cases. Pulmonary agenesis/hypoplasia is considered a part of Goldenhar syndrome, and the syndrome with pulmonary agenesis is termed an expanded Goldenhar complex. Here we report another case that includes unilateral pulmonary hypoplasia with Goldenhar syndrome in a premature infant without respiratory distress. n