Van der Hoeve症候群の1例

A Case of Van der Hoeve Syndrome

I．はじめに

　青色鞏膜患者に難聴が合併することは1912年Adair-Dightonによって初めて報告されたが，その後Van der Hoeveら^1）が難聴，骨脆弱，青色鞏膜の3症状を有する遺伝性疾患を報告したことより，現在この3症状を有するものはVan derHoeve症候群と呼ばれ優性遺伝をすると考えられている。われわれはこの症候群と思われる1例を経験し耳科学的検査を行ったので報告する。

　A 1.9-year-old boy with bilateral total deafness and the history of bone fracture twice. His mother did not aware of her deafness, but her hearing loss was detected audiometrically.

　There was no person in the family with osteogenesis imperfecta except him. There were seven persons with blue sclera in three generations of his family, including grandmother of his maternal side, mother and her one sister and her two brothers and his brother and the patient.