Journals / Glokom Katarakt / 2007 / Cilt: 2 - Sayı: 2
Ophthalmologic findings in the cornelia de lange syndrome
- Journal
- Glokom Katarakt
- Pages
- 135–137
- DOI
- —
Abstract
Cornelia de Lange Syndrome (CdLS) is a rarely seen multisystemic disorder that has characteristic features such as mental retardation, prenatal and postnatal growth retardation, upper-limb abnormalities, congenital cardiac, gastrointestinal, genitourinary and ophthalmologic abnormalities and characteristic facies. In this case, we aimed to present ophthalmologic abnormalities in a patient associated with glaucoma that was seen very rarely with CdLS.
Özet
Cornelia de Lange Sendromu (CdLS), mental retardasyon, prenatal ve postnatal gelişme geriliği, üst ekstremite anomalileri, konjenital kalp anomalileri, gastrointestinal, genitoüriner ve oftalmolojik anomaliler ve tipik yüz görünümü ile karakterize nadir görülen multisistemik bir bozukluktur. Bu olguda, CdLS’nda sık görülen oftalmolojik anomaliler ve çok nadir görülen glokom beraberliğini saptayarak sunmayı amaçladık.