Microcephaly-lymphedema-chorioretinal dysplasia: A unique genetic syndromewith variable expression and possible characteristic facial appearance

We report on a follow-up examination of a family with microcephaly and lymp hedema, The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the c oncept of microcephaly, lymphedema,:and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend t hat fundoscopic examination be performed in all patients with microcephaly with or without lymphedema. (C) 1999 Wiley-Liss, Inc.