4.2 Article

Floating-Harbor Syndrome and Intramedullary Spinal Cord Ganglioglioma: Case Report and Observations From the Literature

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 149A, 期 10, 页码 2265-2269

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WILEY
DOI: 10.1002/ajmg.a.33014

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delayed bone age; speech delay; Floating-Harbor syndrome; ganglioglioma; spinal cord neoplasms; mental retardation; short stature

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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. (C) 2009 Wiley-Liss, Inc.

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