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.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Chromosome Aberrations / genetics*
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Chromosome Disorders
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Chromosomes, Human, Pair 22*
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Cysts / genetics*
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DNA Probes
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Female
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Genetic Markers / genetics
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Humans
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Infant, Newborn
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Microphthalmos / genetics*
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Orbital Diseases / genetics*
Substances
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DNA Probes
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Genetic Markers