Bhatia Shenny, Mehra Y N
Deptt. ENT, 757, Sector 8-B, PGI, Chandigarh, India.
Indian J Otolaryngol Head Neck Surg. 2003 Jul;55(3):188-90. doi: 10.1007/BF02991951.
It is relatively rare, dominant form of syndrome characterized by combination of blue sclerae brittle banes and Hearing loss. One of the conditions may be absent. Two cases, one 22 year old mtde with UltUtgray selrae md the other a 25 year old female with blue sclerae presented to us with hearing loss. Family history of hearing toss and blue sclerae were positive.
它是一种相对罕见的显性综合征,其特征为蓝巩膜、脆性骨骼和听力丧失同时存在。其中一种情况可能不存在。我们接诊了两例患者,一例是22岁患有蓝巩膜的男性,另一例是25岁患有蓝巩膜的女性,他们都伴有听力丧失。听力丧失和蓝巩膜的家族史均呈阳性。