Goldenhar Syndrome in Association With Profound Mental Retardation

Abstract

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 1 st and 2 nd 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.