Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11

The syndrome now known as microcephaly associated with congenital lymphedema and chorioretinopathy (MLCR) was first described in 1980 by Alzial et al.¹ Microcephaly with chorioretinal dysplasia has been reported to be inherited in an autosomal dominant or autosomal recessive manner and has a variety of associations, including lymphedema and mental retardation. Our patient displayed all 4 of these clinical characteristics and appeared to manifest an autosomal dominant inheritance pattern.