Abstract
A boy with chromosome 14 terminal (14q32.3) deletion presented with typical facial dysmorphism, mental retardation, and hypotonia. Ocular examination revealed esotropia, jerk nystagmus, microcornea, and retinal-choroidal colobomas. We report the first case of microcorneas and colobomas in association with chromosome 14 terminal deletion to help further define this clinical syndrome.
MeSH terms
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Abnormalities, Multiple*
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Child, Preschool
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Choroid / abnormalities
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Choroid / diagnostic imaging
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Chromosome Deletion*
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Chromosomes, Human, Pair 14 / genetics*
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Coloboma / diagnostic imaging
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Coloboma / genetics
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Cornea / abnormalities
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Esotropia / genetics*
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Eye Abnormalities / diagnostic imaging
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Eye Abnormalities / genetics*
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Face / abnormalities
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Humans
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Intellectual Disability / genetics
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Male
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Nystagmus, Pathologic / genetics*
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Retina / abnormalities
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Retina / diagnostic imaging
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Syndrome
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Ultrasonography