Ophthalmologic findings in the cornelia de lange syndrome

Objective & Hypothesis: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.

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Key Findings & Data: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.

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Conclusion & Impact:In this case, we aimed to present ophthalmologic abnormalities in a patient associated with glaucoma that was seen very rarely with CdLS.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Blefaropitoz · Oftalmolojik cerrahi işlemler · Miyopi

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.

Keywords

Blefaropitoz Oftalmolojik cerrahi işlemler Miyopi Zeka geriliği Süt çocuğu Glokom Kadın De Lange sendromu Blepharoptosis Ophthalmologic Surgical Procedures Myopia Mental Retardation Infant Glaucoma Female De Lange Syndrome

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Cite This Article

BORAZAN, M., KARALEZLİ, A., AKOVA, Y. A., OTO, S., AKMAN, A. (2007). Ophthalmologic findings in the cornelia de lange syndrome. Glokom Katarakt, Cilt: 2 - Sayı: 2, 135–137. https://ajindex.com/articles/226647

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