[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.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000473:pathology; D005128:Eye Diseases / Q000150:complications; D006801:Humans; D008297:Male; D012162:Retinal Degeneration / Q000150:complications* / Q000473:pathology; D013577:Syndrome; D014822:Vitreous Body
Kongenitale Knochendysplasie und vitreoretinale degeneration.