Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports

Abstract

Hemifacial microsomia is a rare dentofacial anomaly which is regarded as a separate entity to Goldenhar syndrome and primarily affects the structures of the first branchial arch. It has a heterogeneous aetiology and tends to occur sporadically, though positive family histories have been reported. This paper reports on individuals in two generations of a family that has overlapping features of hemifacial microsomia and Goldenhar syndrome segregating as an autosomal dominant condition.