Van der Hoeve症候群—1家系3症例

Van der Hoeve's Syndrome in One Family

I．はじめに

　Van der Hoeve症候群は難聴，青色鞏膜，骨脆弱を三主徴とする遺伝性の疾患とされている。この三主徴を有する家系は1918年にVan der Hoeve and de Kleyn^1）によって最初に報告された。その後，数世代にわたる報告もみられ，1979年Quisling^2）は5世代160家系の骨形成不全症について報告した。今回われわれは1家系3症例のVan der Hoeve症候群を経験したので報告する（図1）。

　Three patients of van der Hoeve's syndrome were found in one family, and they presented hearing loss, multiple fractures and blue sclerae. A 34-year-old female complained of continuous tinnitus, vertigenous sensation, promontory flash, mixed type of deafness and reduced caloric response. Stapedectomy was performed in her left ear, and the superstructure of stapes was found to be fractured and the posterior half of footplate was fragile. Those fragments were carefully removed in order to avoid becoming floating footplate, and Gelfoam wire was inserted there. The conductive component of her hearing loss was not improved postoperatively.