[Congenital bone dysplasia and vitreoretinal degeneration]

Morbus Kniest was described by Springer and Wiedemann as an early form of dysplasia spondylo-epi-metaphysaria. The syndrome is combined with vitreoretinal degeneration. It is an autosomal dominantly inherited disorder, like Morbus Wagner. We report on a case with dwarfism and cataracta complicata. The diagnosis must be differentiated to Morbus Morquio.