A 1-hour-old female neonate, born out of a non-consanguineous marriage, at 37 weeks, was shifted to our care in the neonatal intensive care unit (NICU) due to fast breathing and chest indrawing. The baby was delivered by vaginal route to a 28-year-old primigravida mother. The baby had an APGAR score of 8 and 9 at 1 and 5 minutes of life, respectively. The antenatal period was uneventful, with neither history of gestational diabetes, hypertension, or hypothyroidism nor any intake of teratogenic drugs or radiation exposure. Folic acid supplementation was taken. Antenatal scans done in each trimester were normal. There was no family history of any congenital anomalies. The neonate had a birth weight 2200 g (5–10th centile according to Intergrowth-21 chart), length 48 cm (25–50th centile), and head circumference 32 cm (10–25th centile). At admission, her heart rate was 156 beats/minute, respiratory rate 74/minute, with SpO2 85% on room air, temperature 36.6°C, blood pressure 76/48 (56) mmHg, and capillary filling time <3 seconds. There was no cyanosis, pallor, icterus, or edema. On head-to-toe examination, the anterior fontanelle was open, and the eyelids appeared asymmetrical with right eyelid swelling. Furthermore, the baby had abnormal facial features such as right-sided facial palsy (including absence of forehead wrinkling) along with deviation of the mouth to the left side with the absence of the nasolabial fold on the right side Figure 1, all being suggestive of hemifacial palsy. In addition, she had microtia of the right ear associated with a preauricular skin tag Figure 2a. There was no cleft lip or palate; nasal and anal patency were intact. Chest examination revealed subcostal and intercostal retractions, but there was bilateral good air entry with no adventitious sounds; S1 and S2 were audible with no murmur. Neonatal reflexes such as rooting, sucking, and Moro’s reflex were present.Figure 1: Baby presenting with congenital facial palsy in the form of facial asymmetry, deviation of the angle of the mouth toward the left side, absent nasolabial fold on the right side, and no wrinkling on the foreheadFigure 2: (a) Right ear microtia with preauricular skin tag; (b) limbal dermoid in the right eyeThe spine appeared abnormally curved, though the skin over the spine was normal. There were no limb or digit abnormalities. A provisional diagnosis of mild transient tachypnea syndrome with right facial palsy and right-sided microtia in a term low birth weight baby was kept, possibly due to Goldenhar syndrome. The neonate was started on intravenous fluids and bubble continuous positive airway pressure (CPAP) support at PEEP 6, and FiO2 25%, thus maintaining SpO2 of 94%. Baseline investigations showed hemoglobin 16.6 g/dl, total leukocyte count 8200/cumm, platelets 240,000/cumm, urea/creatinine 28/0.46 mg/dl, bilirubin (total/conjugated) 6.4/0.7 mg/dl, aspartate aminotransferase/alanine aminotransferase 36/32 IU/L, sodium/potassium 137/3.7 meq/L, ionized calcium 1.12 mg/dl, and random blood sugar 89 mg/dl. Otorhinolaryngology examination confirmed right ear microtia with an underdeveloped upper part of the pinna, without any ear discharge Figure 2a. Patency of the external auditory canal was checked on both sides. The otoacoustic emission (OAE) was done on the 12th day of life, which was suggestive of normal left ear function and abnormal right ear function, suggesting possible impairment of outer cochlear hair cell function. Detailed examination indicated a lower motor neuron type of facial nerve palsy, possibly a congenital abnormality as part of a syndrome. Persistent watering from the eyes prompted an eye evaluation, which revealed right eye limbal dermoid Figure 2b with lacrimal gland obstruction and was advised lubricant eye drops and bandaging of eyes. Ultrasound (USG) B-scan was normal and was advised follow-up. Plastic surgeons advised no active intervention for the facial features. A TORCH profile to rule out congenital infections was negative. X-ray of the chest showed both lungs well-expanded with a mild reticulogranular pattern and prominent bronchovascular markings. Furthermore, vertebral anomalies, including levoscoliosis of the dorsal vertebrae, were noted Figure 3. Screening USG cranium and abdomen was normal. 2-D echocardiography was suggestive of tiny closing patent ductus arteriosus with good biventricular function. A magnetic resonance imaging of the brain was done to confirm associated structural abnormalities, but it was normal.Figure 3: Chest and spine X-ray showing a mild reticulogranular pattern in the lung parenchyma with prominent bronchovascular markings; arrows showing scoliosis in the dorsal vertebraeThe neonate was weaned off CPAP support to room air by 48 hours, and the baby remained stable, and breastfeeding was initiated. Some differential diagnoses considered included Treacher Collins syndrome (TCS), in which there is microtia and mandibular hypoplasia similar to Goldenhar syndrome. However, TCS shows bilateral and symmetric craniofacial involvement with distinctive lower eyelid colobomas and a lack of vertebral anomalies. In CHARGE syndrome, usually, there is facial symmetry with choanal atresia and coloboma being more common than other eye anomalies. Similarly, nonsyndromic hemifacial microsomia can resemble Goldenhar syndrome since both conditions involve unilateral mandibular underdevelopment and ear anomalies, but Goldenhar syndrome is more likely to include epibulbar dermoids and systemic findings such as cardiac and vertebral defects. Others, such as Nager syndrome, Townes–Brocks syndrome, and Cat eye syndrome, were ruled out due to the absence of some characteristic features. Recognizing the hallmarks of Goldenhar syndrome, such as unilateral facial involvement, epibulbar or limbal dermoids, preauricular tags, and associated vertebral anomalies, helped us to conclude this as the final diagnosis. Hence, a diagnosis of term, low birth weight, female neonate with transient tachypnea syndrome with features of Goldenhar syndrome was made. Parents were counseled regarding the condition, advising them for regular follow-up with a possibility of corrective or reconstructive surgery for facial, eye, or ear abnormalities in the future. The neonate was discharged on Day 14 of life with a weight 2310 gm. The plan was to repeat the OAE test after 2 weeks, with confirmatory testing by BERA (brainstem evoked response audiometry) at 3 months of age. The hemifacial palsy persisted, and gentle massage over the forehead, cheek, and around the mouth was advised, along with the use of lubricant eye drops. After discharge, the baby was followed up regularly for anthropometric and neurodevelopmental growth, which showed optimal weight gain and normal development. Facial asymmetry improved gradually by 2 weeks. Goldenhar syndrome is a rare and complex syndrome characterized by hemifacial microsomia, deformities of the ear, epibulbar or limbal dermoid or coloboma of the eyelid, nasolacrimal duct obstruction, and vertebral anomalies.1,2 A combination of abnormalities in the eye, ear, vertebral, and heart is rarely seen. Auricular abnormalities such as preauricular tags, microtia, and anotia are seen in about 65% of cases, with the incidence of conductive hearing loss being reported in 46% of cases.3,4 Vertebral anomalies include absence of vertebrae, hemivertebrae, kyphosis, scoliosis, and fused ribs.5 Facial nerve palsy is also a common feature in this syndrome. The importance of psychosocial support for the child is important. The long-term outcome of Goldenhar syndrome varies widely due to its broad spectrum of clinical involvement. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Popat et al. (Wed,) studied this question.