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Am J Med Genet A. 2009 Oct;149A(10):2265-9. doi: 10.1002/ajmg.a.33014.

Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature.

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  • 1Department of Pediatrics, University of California at Davis, Sacramento, California 95817, USA.

Abstract

We report on a 5-year-old male with expressive language delay, developmental delay, short stature, and facial anomalies consistent with Floating-Harbor syndrome (FHS). In addition, he developed an intramedullary ganglioglioma. This is the first reported case of a tumor associated with FHS, and may represent an as yet undefined genetic link between spinal cord tumors and FHS, adding this syndrome to the growing list of disorders with a predisposition for tumor development.

PMID:
19764022
[PubMed - indexed for MEDLINE]
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