Ophthalmologic findings in child in the Cornelia de Lange syndrome

Danuta Sielicka; Małgorzata Mrugacz; Alina Bakunowicz-Łazarczyk; Dorota Średzińska-Kita

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

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4/2009
vol. 111

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abstract:

Case report

Ophthalmologic findings in child in the Cornelia de Lange syndrome

Danuta Sielicka

¹

,

Małgorzata Mrugacz

¹

,

Alina Bakunowicz-Łazarczyk

¹

,

Dorota Średzińska-Kita

¹

Klinika Okulistyki Dziecięcej z Ośrodkiem Leczenia Zeza Uniwersytetu Medycznego w Białymstoku

Klinika Oczna 2009, 111 (4): 348-349

Online publish date: 2009/12/19

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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 years 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.

keywords:

Ophthalmologic findings in child in the Cornelia de Lange syndrome

Danuta Sielicka 1 , Małgorzata Mrugacz 1 , Alina Bakunowicz-Łazarczyk 1 , Dorota Średzińska-Kita 1

Cornelia de Lange syndrome, eye, children

Danuta Sielicka

¹

,

Małgorzata Mrugacz

¹

,

Alina Bakunowicz-Łazarczyk

¹

,

Dorota Średzińska-Kita

¹