Case Report Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association Nagendra Chaudhary, 1 Sandeep Shrestha, 1 and Hemant Kumar Halwai 2 1 Department of Pediatrics, Universal College of Medical Sciences, Bhairahawa 32900, Nepal 2 Department of Orthodontics, Universal College of Dental Sciences, Bhairahawa 32900, Nepal Correspondence should be addressed to Nagendra Chaudhary; enagendra@hotmail.com Received 19 February 2017; Accepted 2 March 2017; Published 9 March 2017 Academic Editor: Philip D. Cotter Copyright © 2017 Nagendra Chaudhary et al. Tis is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of frst and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. Te etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association. 1. Introduction Goldenhar syndrome (GS) is a rare congenital malformation occurring due to defective development of frst and second branchial arches which was frst described in 1952 by a Swiss ophthalmologist Maurice Goldenhar. Later on, the terminol- ogy, oculoauriculovertebral (OAV) dysplasia was coined by Gorlin et al. in 1963 [1]. Hemifacial microsomia was included in the syndrome and termed as facioauriculovertebral syndr- ome (FAV) by Smith in 1988 [2]. Te exact etiology of the syn- drome is still unknown. Te disorder presents with complex manifestations incl- uding involvement of face, ears, eyes, and vertebrae with vary- ing in severity [3]. Facial involvement includes unilateral facial hypopla- sia, hypoplasia of maxillary, and mandibular and zygoma- tic bone. Eye involvement presents with epibulbar dermoid/ lipodermoid, microphthalmia, anophthalmia, cataract, astig- matism, antimongoloid obliquity of palpebral fssures, ble- pharophimosis and colobomata of the upper eyelid, iris, and retina. Preauricular skin tags or blind fstulas, microtia, external ear malformations (dysplasia, asymmetries, aplasia, and atresia of the external meatus), and middle and inter- nal ear anomalies are ear manifestations of the syndrome. Vertebral column anomalies (fused vertebrae, hemivertebrae, and scoliosis) and congenital heart disease are also associated with GS. Pulmonary hypoplasia/aplasia with dextrocardia in GS has not been reported before from Nepal. Tis case of GS is probably the frst case to the best of our knowledge showing the above-mentioned association. 2. Case Presentation A 7-year-old girl, a product of nonconsanguineous parents, presented to pediatric outpatient department with com- plaints of deviation of face to lef side and with progressively increasing mass noticed on lef eye. Antenatal and birth his- tory was uneventful. Developmental milestones were normal. Examination revealed deviation of face on lef side sug- gesting hypoplasia of lef mandible with high arched palate. Ear examination showed normal ears with lef-sided preau- ricular tag. Hearing was normal. Eye examination showed lef eye limbal dermoid (Figures 1(a)–1(d)). Limbs examination showed atrophy of lef thenar muscles (Figure 2). Cardio- vascular examination was suggestive of presystolic murmur. Respiratory examination showed decreased air entry on right side. Hindawi Case Reports in Genetics Volume 2017, Article ID 2625030, 4 pages https://doi.org/10.1155/2017/2625030