Goldenhar syndrome is a variant of hemifacial microsomia. It is not usually associated with mental retardation; even if present it is mild to moderate. In this case both profound mental retardation and bilateral facial microsomia are present. Early identification and intervention can improve the intellectual functioning, otherwise favorable prognosis. INTRODUCTION: In 1952 Maurice Goldenhar described a variant of hemifacial microsomia called Goldenhar syndrome. It results from an aberrant development of the 1st and 2nd branchial arches. It has an incidence of approximately 1 in 5600, more common among males with a ratio of 2:1 and also common among whites.[1] Goldenhar syndrome is a form of occulo – auriculo vertebral spectrum (OAVS), as a minimal sign microtia must be present.[2] It presents bilaterally in 10-33% of cases.[3] About 10% of children may have mental retardation, usually mild to moderate.[4] Here we report a case of Goldenhar syndrome with profound mental retardation which is very unusual. CASE REPORT: A 1yr 5month old male child who was first born to 3rd degree consanguineously married couple, presented to hospital with history of fever, cough, hurried breathing, chest in drawing of two days duration. There was no history suggestive of cyanosis, recurrent pneumonia or hospital admissions in the past. There was no significant family history of major medical or genetic disorders. During the antenatal period, the mother underwent regular antenatal check-ups with only one antenatal scan done in the third trimester, which was told to be normal. This baby was delivered at term through caesarean section at our institution with a birth weight of 3 kg without any significant neonatal events. There was a history of developmental delay since birth with development age corresponds to 7-8months at the time of presentation. The child was sick looking with significant respiratory distress. He was euglycemic, afebrile, maintained saturation in room air with normal heart rate. Head to toe examination of the child revealed auricular abnormalities like microtia with pre-auricular tag bilaterally and ocular abnormalities like micro-opthalmous, micro-cornea, iris-coloboma and retinochoroidal coloboma bilaterally, child also had hypoplastic mandible as illustrated in figure 1. There was no facial asymmetry or cranial nerve involvement, no other obvious anatomical abnormality was present. Child had extensive crepitations on both the sides, other systems were normal. Child had a silent precordium with single first and second heart sound without any murmur. Liver span was 6cm along the mid-clavicular line, there were no focal neurological deficits. An initial working diagnosis of lower respiratory tract infection probably bronchopneumonia with syndromic facies was made. DOI: 10.14260/jemds/2014/3419