Abstract
1/2012
vol. 114
Review paper
Systemic and ophthalmological findings in Cornelia de Lange syndrome
- Klinika Okulistyki Dziecięcej z Ośrodkiem Leczenia Zeza Uniwersytetu Medycznego w Białymstoku
Klinika Oczna 2012, 114 (1)
Online publish date: 2012/03/29
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.
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
Cornelia de Lange syndrome, genetic basis, eye
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