A Neonate with Facial Asymmetry.

Abstract

A term female newborn with antenatal concern for right-sided multicystic dysplastic kidney (Fig 1) is noted to have facial asymmetry and left microtia (Figs 2 and 3).The patient was transferred to the NICU shortly after delivery for further evaluation because of prenatal concern for multiple congenital anomalies.A thorough evaluation was initiated to confirm the diagnosis. An eye examination demonstrated a small, raised white mass in the limbal area of the left cornea. A dilated ophthalmoscopic examination confirmed a left corneal limbal dermoid without any other abnormalities. A feeding tube was able to be passed to the stomach, ruling out esophageal atresia, though TEF was still of concern. A brainstem auditory evoked response test demonstrated right ear conductive hearing loss with inability to assess the left ear because of its deformation. Initial newborn screening revealed an elevated thyroid-stimulating hormone concentration; thyroid function studies confirmed the diagnosis of congenital hypothyroidism. Endocrinology was consulted and recommended thyroid ultrasonography to evaluate for athyroidism before initiating treatment. Ultrasound scans could not be obtained because of the limited capabilities of the radiology department, and hormone replacement therapy was initiated.Facial asymmetry with left-sided hypoplasia and ear, cardiac, and renal anomalies in a term infant:The patient’s major anomalies of a limbal dermoid, mandibular hypoplasia, and otic deformity led to a diagnosis of Goldenhar syndrome.After the diagnosis of Goldenhar syndrome was made, the patient was transferred from the delivery hospital NICU to the nearby children’s hospital for care coordination by the craniofacial team. Speech therapists worked closely with the patient on oral feeding skills. Outpatient appointments were scheduled to follow up with multiple subspecialists, including otolaryngology, cardiology, nephrology, ophthalmology, genetics, speech therapy, endocrinology, craniofacial medicine, and audiology. She was discharged from the hospital with a nasogastric tube for feeding and thyroid hormone replacement therapy. Because of aspiration on a barium swallow study at 12 weeks of age, she underwent gastrostomy tube placement at age 6 months.Goldenhar syndrome falls within the oculo-auriculo-vertebral spectrum (OAVS), under the broader category of craniofacial microsomias. Goldenhar syndrome is noted as the most severe form of OAVS, with oculo-auriculo-vertebral disorder as the mildest form and hemifacial microsomia as an intermediate form. (2)The incidence of OAVS is thought to range from 1 in 3,500 live births to 1 in 25,000 live births. OAVS affects male patients more than female patients (ratio of 3:2). OAVS is thought to occur sporadically; some cases have been reported with an autosomal dominant inheritance pattern, and less frequently, an autosomal recessive inheritance pattern. (3) A possible pathogenic mechanism of this syndrome may be an abnormal vascular event in early pregnancy, which leads to abnormal development of the first and second pharyngeal arches, which are responsible for the growth of craniofacial structures. This syndrome has been associated with maternal exposure to retinoic acid, primidone, and thalidomide, and maternal conditions such as gestational diabetes.The classic findings associated with OAVS include ocular, otic, and craniofacial anomalies. OAVS cases can be readily apparent at birth and characterized by a wide spectrum of signs and symptoms that can vary greatly in severity and presentation. The spectrum of malformations with OAVS can involve multiple organ systems, including central nervous, pulmonary, cardiovascular, renal, and gastrointestinal (Table). Craniofacial anomalies are usually unilateral (∼60%) and cause facial asymmetry. (3) In such cases, the right side tends to be more severely affected than the left. In about 10% to 33% of OAVS cases, craniofacial anomalies can be bilateral, though one side tends to have more prominent abnormalities than the other. (2) Hypothyroidism has been reported rarely with OAVS, which was the case with this neonate. The thyroid gland forms from the branchial arches, thus thyroid agenesis and subsequent hypothyroidism can be features of OAVS. (4)A prenatal diagnosis of OAVS is difficult because vertebral, gastrointestinal, and renal anomalies can be seen in numerous other conditions. For example, among the possible diagnoses for the patient, Nager syndrome and VACTERL association were thought to be less likely given a lack of extremity deformity. (1)(5) Also, CHARGE syndrome and VACTERL association were excluded, given the lack of anal and genital anomalies. (1)(5) Therefore, a thorough postnatal clinical evaluation and identification of characteristic findings is essential for early diagnosis of OAVS. Initial assessment includes a thorough physical examination followed by organ-specific evaluation, including echocardiography, renal and cranial ultrasonography, and audiology evaluation. Overall, multiple specialties are involved in the care of patients with Goldenhar syndrome, both in the hospital and as outpatients.