[Systemic and ophthalmological findings in Cornelia de Lange syndrome].
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.
Klinika Okulistyki Dzieciecej z Ośrodkiem Leczenia Zeza Uniwersytetu Medycznego w Bialymstoku. mrugacz1@poczta.onet.pl
Małgorzata
M
Mrugacz
Danuta
D
Sielicka
D000869:Anterior Eye Segment / Q000002:abnormalities*; D015715:Corneal Edema / Q000151:congenital; D003318:Corneal Opacity / Q000151:congenital; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D005901:Glaucoma / Q000151:congenital; D006801:Humans; D010641:Phenotype