Systemic and ophthalmological findings in Cornelia de Lange syndrome

Małgorzata Mrugacz; Danuta Sielicka

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

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1/2012
vol. 114

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abstract:

Review paper

Systemic and ophthalmological findings in Cornelia de Lange syndrome

Małgorzata Mrugacz

¹

,

Danuta Sielicka

¹

Klinika Okulistyki Dziecięcej z Ośrodkiem Leczenia Zeza Uniwersytetu Medycznego w Białymstoku

Klinika Oczna 2012, 114 (1)

Online publish date: 2012/03/29

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Cornelia de Lange Syndrome (CdLS, de Lange syndrome, Brachmann-de Lange syndrome), is a relatively rare genetic disorder,

characterized by set of clinical abnormalities concerning different organs and systems. Phenotypic diagnosis is based on a specific dysmorphic features seen after the birth. We described a genetic basis, hereditary patterns, characteristic dysmorphic

features and the most common clinical findings of patients Cornelia de Lange Syndrome concerning eye and vision, hearing,

cardiovascular, respiratory, gastrointestinal, genitourinary, skeletal and psychomotor development.

keywords:

Systemic and ophthalmological findings in Cornelia de Lange syndrome

Małgorzata Mrugacz 1 , Danuta Sielicka 1

Cornelia de Lange syndrome, genetic basis, eye

Małgorzata Mrugacz

¹

,

Danuta Sielicka

¹