Oculoauriculovertebral Spectrum with Radial Anomaly in Child
An eight-year-old male child presented to the Pediatric Outpatient Department with complaints of facial asymmetry and polydactyly with bilateral microtia since birth. The child was born by vaginal delivery at a government hospital, with a birth weight of 2.5 kg. He was the second born. There was no family history of malformations. No mental retardation was detected during examination. The child showed undernourishment and weighed 15 kg (<fiftieth percentile) and a height of 110 cm (<fiftieth percentile). On physical examination, facial asymmetry, right side infranuclear facial palsy, bilateral microtia with bilateral ear tag [], short neck, high arched palate, and skin tags on the nape of the neck were present. Dental caries were present, with normal dental development. There was lower motor neuron weakness of the facial nerve on the right side, manifested by an inability to close the right eye and loss of a nasolabial fold on the same side. Asymmetric crying facies was noted with the right lower lip being pulled down while crying or chewing. Left eye closure and nasolabial fold were normal. Left preaxial polydactyly was present [], whereas, the other hand was normal. The length of both the hands was equal. His parents were normal on clinical examination. The first and third of the children, both boys, were normal.\nOn ophthalmological examination, the only positive finding was presence of a right-sided iris coloboma. Cardiac auscultation revealed that S1 and S2 were normal and a soft systolic murmur was present in the pulmonary area. No other abnormality was detected on systemic examination. The patient showed moderate-to-severe bilateral conductive hearing loss on audiometry. Abdominal sonography was normal. Renal function tests, liver function tests, and thyroid function tests were normal. Echocardiography and Color Doppler did not detect any cardiac lesion. X-ray examination of the skull and vertebral column did not show any vertebral abnormality. A computed tomography (CT) scan of the temporal bone revealed bony atresia of the external auditory canal, with absence of mastoid pneumatization of the right ear and left ear, showing auricular tags with bony atresia of the external auditory canal, with a deformed ossicular chain.