Surgical and Histological Findings of the Stapes Associated with Van der Hoeve Syndrome in a Japanese Boy

Abstract

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 It was noteworthy that the stapedial superstructure was retracted posteriorly by contraction of the stapedial muscle associated with sound stimuli.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.

Histopathology of the stapes in osteogenesis imperfecta

“…The quiescent, sclerotic last stage of the otosclerotic process was not seen. Our results support the statement of others (Wullstein et al, 1960;Shea etal., 1963;Bretlau etal., 1970;Morimitsu and Hayashida, 1973;Sando etal., 1981), that the stapedial fixation in OI may be caused by an otosclerotic-like or otospongiotic-like lesion in the footplate. In most cases, the lesion in the otosclerotic stapes is located in the anterior part of the footplate as it extends from the anterior part of the oval window region (Bretlau and J0rgensen, 1968).…”