Lucarini J W, Liberfarb R M, Eavey R D
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston 02114.
Int J Pediatr Otorhinolaryngol. 1987 Dec;14(2-3):215-22. doi: 10.1016/0165-5876(87)90033-4.
The Stickler syndrome is a dominantly inherited, connective tissue disorder associated with retinal detachments, joint and skeletal abnormalities, and characteristic facies. We wished to evaluate patients with this disorder to ascertain the frequency of otolaryngological manifestations. Fourteen patients, 4-17 years of age, were evaluated when admitted for retinal detachment. Findings included: midface hypoplasia in all patients; mandibular hypoplasia in 11 patients; palatal anomalies in 10 patients (frank cleft in 6, submucous cleft in two, highly arched palate in two); and hearing loss in 6 patients (mixed loss in 3, sensorineural loss in 3). Hearing loss appeared more commonly in the higher frequencies; no apparent correlation was found between the presence of hearing loss and orofacial anomalies. Our experience suggests that the Stickler syndrome is not rare. Craniofacial dysmorphic features and otologic findings are sufficiently frequent to warrant otolaryngological evaluation.
斯迪克勒综合征是一种常染色体显性遗传的结缔组织疾病，与视网膜脱离、关节和骨骼异常以及特征性面容有关。我们希望评估患有这种疾病的患者，以确定耳鼻喉科表现的发生率。14名年龄在4至17岁的患者因视网膜脱离入院时接受了评估。结果包括：所有患者均有面中部发育不全；11名患者有下颌发育不全；10名患者有腭部异常（6例为完全腭裂，2例为黏膜下腭裂，2例为高拱腭）；6名患者有听力损失（3例为混合性听力损失，3例为感音神经性听力损失）。听力损失在高频段更为常见；听力损失的存在与口面部异常之间未发现明显相关性。我们的经验表明，斯迪克勒综合征并不罕见。颅面部畸形特征和耳科检查结果足够常见，值得进行耳鼻喉科评估。
