Sielicka Danuta, Mrugacz Małgorzata, Bakunowicz-Łazarczyk Alina, Sredzińska-Kita Dorota
Z Kliniki Okulistyki Dzieciecej z Ośrodkiem Leczenia Zeza Uniwersytetu Medycznego w Białymstoku.
Klin Oczna. 2009;111(10-12):348-9.
Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, development delay, low birth weight, skeletal anomaly, hirsutism and various ophthalmologic and hearing findings.
We described ophthalmologic problems in 2-year-old girl.
We have find arched eyebrows, long lashes, epiphora, ptosis, nystagmus, myopia, and fundus eye changes.
We recommend early ophthalmologic examination in patients with Cornelia de Lange syndrome.
科妮莉亚·德·朗格综合征是一种罕见疾病，具有特征性面容、发育迟缓、低出生体重、骨骼异常、多毛症以及各种眼科和听力方面的表现。
我们描述了一名2岁女童的眼科问题。
我们发现患儿有眉弓高耸、睫毛长、溢泪、上睑下垂、眼球震颤、近视以及眼底改变。
我们建议对科妮莉亚·德·朗格综合征患者进行早期眼科检查。
