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Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible
C Limwongse1, R E Wyszynski, L H Dickerman
1Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.
American Journal of Medical Genetics
|September 14, 1999
Abstract:
We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.