title: [Ophthalmological manifestations of Cornelia de Lange syndrome: Case report and review of the literature].
abstract: A 2-year-old boy suffering from Cornelia de Lange syndrome, presented with mucopurulent ocular discharge and epiphora since birth. Irrigation and probing of the nasolacrimal system revealed and successfully treated bilateral nasolacrimal duct obstructions. Cornelia de Lange syndrome is characterized not only by typical facial features, visceral and urogenital anomalies but also by ophthalmological manifestations in 99% of cases. The most common ophthalmological disorders are synophrys, blepharitis, epiphora, hypertrichosis of the eyebrows and eyelashes, myopia, ptosis and nasolacrimal duct obstruction.
authors.affiliation: Zentrum für Augenheilkunde, Universität zu Köln, Universitätsklinikum Köln, Kerpener Str. 62, 50924, Köln, Deutschland, georgia.avgitidou@uk-koeln.de.
authors.forename: G
authors.initials: G
authors.lastname: Avgitidou
authors.forename: C
authors.initials: C
authors.lastname: Cursiefen
authors.forename: L M
authors.initials: LM
authors.lastname: Heindl
mesh_terms: D002675:Child, Preschool; D003607:Dacryocystitis / Q000175:diagnosis* / Q000628:therapy*; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000628:therapy*; D003937:Diagnosis, Differential; D006801:Humans; D007767:Lacrimal Duct Obstruction / Q000175:diagnosis* / Q000628:therapy*; D008297:Male; D016896:Treatment Outcome