Ross U H, Laszig R, Bornemann H, Ulrich C
Department of Oto-Rhino-Laryngology, University of Freiburg, Germany.
Acta Otolaryngol. 1993 Sep;113(5):620-4. doi: 10.3109/00016489309135874.
Osteogenesis imperfecta (OI) is an autosomal-dominantly inherited connective tissue disorder characterized by abnormal bone fragility combined with blue sclerae. The association of OI with hearing impairment is commonly known as Van der Hoeve-de Kleyn syndrome. Besides typical symptoms we here report on findings by high resolution CT and by high resolving scintigraphy of the labyrinthine capsule in 3 families (9 patients) with OI, which resemble those in otosclerosis (OS): In 4 of 6 cases with OI and mixed hearing loss, severely decreased peri-cochlear bone density was established by CT. In these cases, increased bone metabolism could be revealed by high resolving tympano-cochlear scintigraphy (TCS) in the cochlear region. In 2 patients with mixed hearing loss and 3 cases without hearing impairment or with slight conductive hearing loss, bone alteration was not detectable by CT and TCS. These results raise the question whether OI and OS lead to similar labyrinthine bone alterations, based on different aetiologies or whether these diseases may co-exist, OS being part of OI.
成骨不全症（OI）是一种常染色体显性遗传的结缔组织疾病，其特征为骨骼异常脆弱并伴有蓝色巩膜。OI与听力障碍的关联通常被称为范德霍夫-德克莱因综合征。除了典型症状外，我们在此报告了3个患有OI的家族（9名患者）经高分辨率CT以及内耳骨迷路高分辨率闪烁扫描的结果，这些结果与耳硬化症（OS）相似：在6例患有OI且伴有混合性听力损失的患者中，有4例经CT证实耳蜗周围骨密度严重降低。在这些病例中，高分辨率鼓室-耳蜗闪烁扫描（TCS）显示耳蜗区域骨代谢增加。在2例患有混合性听力损失的患者以及3例无听力障碍或伴有轻度传导性听力损失的患者中，CT和TCS均未检测到骨质改变。这些结果提出了一个问题，即OI和OS是基于不同病因导致相似的内耳骨改变，还是这些疾病可能共存，OS是OI的一部分。
