Ogawa K, Sameshima A, Hirota J, Nobori T, Tokushige E, Ushikai M, Fukuda K
Department of Otolaryngology, Prefectural Kanoya Hospital, Kagoshima, Japan.
Nihon Jibiinkoka Gakkai Kaiho. 1996 May;99(5):689-94. doi: 10.3950/jibiinkoka.99.689.
A 32-year-old female with bilateral congenital stapes fixation accompanied by bilateral proximal symphalangism and bilateral hypermetropia is reported. This is the 19th case of congenital stapes fixation and symphalangism in Japan. Hypermetropia was speculated to be one of the cardinal symptoms of the disease based on the present case and cases previously reported. In this case hypermetropia was due to pure microphthalmos and this was the first report that revealed the cause of hypermetropia in the syndrome. Bilateral stapedotomy were carried out and her hearing loss was improved to the satisfactory level.
报告了一名32岁女性，患有双侧先天性镫骨固定，并伴有双侧近端指间关节融合和双侧远视。这是日本第19例先天性镫骨固定和指间关节融合病例。根据本病例及先前报道的病例推测，远视是该疾病的主要症状之一。在本病例中，远视是由于单纯小眼球引起的，这是首次揭示该综合征中远视病因的报告。实施了双侧镫骨切开术，她的听力损失改善到了令人满意的水平。
