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Published on: August 9, 2024
[Ophthalmologic findings in child in the Cornelia de Lange syndrome]
Danuta Sielicka1, Małgorzata Mrugacz, Alina Bakunowicz-Łazarczyk
1Z Kliniki Okulistyki Dzieciecej z Ośrodkiem Leczenia Zeza Uniwersytetu Medycznego w Białymstoku.
Purpose:
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.
Material And Methods:
We described ophthalmologic problems in 2-year-old girl.
Results:
We have find arched eyebrows, long lashes, epiphora, ptosis, nystagmus, myopia, and fundus eye changes.
Conclusions:
We recommend early ophthalmologic examination in patients with Cornelia de Lange syndrome.
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