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Cornelia de Lange综合征的特征是:智力及生长发育迟缓,多发性骨骼异常,微弱的低音调哭声,低位耳及浓密的眉、睫。本综合征伴有眼部异常。作者报告1例并发Coats病者为16个月男孩,左眼瞳孔区黄色闪光,智力及生长发育迟缓、短肢畸形、并指、低位耳、多毛症和微弱的低调哭声。眉毛浓密、睫毛长、左上睑下垂、提上睑肌机能弱。左眼15°内斜视。右眼底正常;左眼底在赤道部后方沿颞下视网膜血管有许多扩张的毛细血管和小动脉瘤,黄斑区及颞下象限有黄色渗出物,系典型的早期Coats病。染色体核型分析结果正常。在左眼底毛细血管扩张区行冷
Cornelia de Lange syndrome is characterized by: mental and growth retardation, multiple bone abnormalities, weak bass cries, low ears and thick eyebrows, eyelashes. This syndrome is associated with ocular abnormalities. The authors report a cohort of 16 cohorts with Coats, a yellow flash in the pupil area of the left eye, impaired intelligence and growth retardation, short-limb deformities, and low, long ears, hirsutism and weak, low-key cries. Eyebrows thick, long eyelashes, left ptosis, levator muscle dysfunction. Left eye 15 ° esotropia. The right fundus is normal. The left fundus possesses many dilated capillaries and small aneurysms along the inferior temporal retinal vessels behind the equator, and yellow exudates in the macula and infratemporal quadrant, typical of early Coats disease. Chromosomal karyotype analysis was normal. Cold in the left fundus capillary telangiectasia