Lim Lik Thai, Blum Robert, Chia Seen Nee, Ting Darren S J, Lavy Timothy E, Dutton Gordon N
Tennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK.
Semin Ophthalmol. 2012 May-Jul;27(3-4):59-60. doi: 10.3109/08820538.2012.680639.
Lacrimal-auricular-dental-digital (LADD) syndrome comprises multiple anomalies. It can be inherited as autosomal dominant with variable expressivity or can be sporadic in nature. The clinical features of LADD syndrome include variably, lacrimal system hypoplasia, ear anomalies (with or without hearing impairment), salivary system hypoplasia, epiblepharon, dry eyes, corneal limbal stem cells deficiency, hypodontia, microdontia, xerostomia, and clinodactyly. We would like to report a unique case series of LADD syndrome patients presenting with diffuse ophthalmoplegia and facial muscle dysfunction, which may be a distinct subset of LADD syndrome or a new syndrome itself. We believe this to be the first such report. We suggest careful examination of ocular movements in all newly diagnosed LADD syndrome patients.
泪腺-耳-牙-指（LADD）综合征包含多种异常。它可作为常染色体显性遗传，具有可变表达性，也可能是散发性的。LADD综合征的临床特征包括泪腺系统发育不全、耳部异常（伴有或不伴有听力障碍）、唾液腺系统发育不全、睑裂异常、干眼、角膜缘干细胞缺乏、牙齿发育不全、小牙、口干以及手指弯曲畸形，这些症状表现不一。我们想报告一组独特的LADD综合征患者病例系列，这些患者表现出弥漫性眼肌麻痹和面部肌肉功能障碍，这可能是LADD综合征的一个独特亚型，或者本身就是一种新的综合征。我们认为这是首例此类报告。我们建议对所有新诊断的LADD综合征患者仔细检查眼球运动情况。
