A case of Van der Hoeve syndrome (osteogenesis imperfecta) in a Japanese boy is reported. Surgical observation revealed that the stapedial crura fractured spontaneously and displaced posteriorly, and the footplate was replaced totally by white, thick, soft bony tissues, although its fixation to the oval window was slight. It was noteworthy that the stapedial superstructure was retracted posteriorly by contraction of the stapedial muscle associated with sound stimuli. Histological examination revealed findings very similar to the so-called blue mantel of otosclerosis in the stapedial crus and the footplate. The genetic relationship between both diseases is discussed in reference to the incidences of both diseases in the Japanese.
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