Abstract
An 8-year old patient with Coffin-Siris syndrome is presented, who was found to have a medulloblastoma during the evaluation of apnea and ventilator dependency. Although several cases of Dandy Walker cysts and one case of brain-stem heterotopia have been described in this rare syndrome, this is the first report of medulloblastoma in a patient with Coffin-Siris syndrome. Possible pathogenetic mechanisms are briefly discussed.
MeSH terms
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Abnormalities, Multiple / complications*
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Brain Neoplasms / complications*
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Brain Neoplasms / diagnostic imaging
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Brain Neoplasms / pathology
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Child
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Cranial Fossa, Posterior
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Developmental Disabilities / complications*
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Female
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Fingers / abnormalities
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Humans
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Intellectual Disability / complications*
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Joint Diseases / complications*
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Medulloblastoma / complications*
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Medulloblastoma / diagnostic imaging
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Medulloblastoma / pathology
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Nails, Malformed
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Radiography
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Syndrome
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Toes / abnormalities