Kniest dysplasia: patient's growth progress and development--evolution of abnormalities, 30 year follow up

A case of a male patient with Kniest dysplasia is reported. The patient's growth and the development and evolution of the patient's abnormalities were tracked for a 30 year period, starting at the patient's birth. The clinical and radiographic features during this period, along with the differential diagnosis of Kniest dysplasia, are discussed. Femoral capital epiphyses and the presence of a cataract in one eye were noted from the early stages of the patient's life. The patient's final height was 165 cm. We believe this to be the first long-term follow up of this condition.