[Bilateral colobomatous microphthalmus with orbital giant cysts in incomplete tetrasomy 22].
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.
Lange
W
W
Augenklinik, Christian-Albrechts-Universität zu Kiel.
Rochels
R
R
Otte
J
J
Schwinger
E
E
Bartsch
O
O
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*
D015342:DNA Probes; D005819:Genetic Markers
Bilateraler kolobomatöser Mikrophthalmus mit orbitalen Riesenzysten bei inkompletter Tetrasomie 22.