title: [Bilateral colobomatous microphthalmus with orbital giant cysts in incomplete tetrasomy 22].
abstract: A case of bilateral microphthalmos with orbital cysts is presented with clinical, echographic, CT and genetical findings. An incomplete trisomy 22 is shown as the likewise cause of the malformation. No further symptoms known to be part of the cat-eye-syndrome could be detected.
authors.affiliation: Augenklinik, Christian-Albrechts-Universität zu Kiel.
authors.forename: W
authors.initials: W
authors.lastname: Lange
authors.forename: R
authors.initials: R
authors.lastname: Rochels
authors.forename: J
authors.initials: J
authors.lastname: Otte
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: O
authors.initials: O
authors.lastname: Bartsch
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D003560:Cysts / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008850:Microphthalmos / Q000235:genetics*; D009916:Orbital Diseases / Q000235:genetics*
chemical_list: D015342:DNA Probes; D005819:Genetic Markers
vernacular_title: Bilateraler kolobomatöser Mikrophthalmus mit orbitalen Riesenzysten bei inkompletter Tetrasomie 22.