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Floating–Harbor syndrome and intramedullary spinal cord ganglioglioma: Case report and observations from the literature
Author(s) -
Nelson Rachel A.,
McNamara Michelle,
Ellis William,
SteinWexler Rebecca,
Moghaddam Billur,
Zwerdling Theodore
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33014
Subject(s) - ganglioglioma , intramedullary rod , spinal cord , short stature , medicine , anatomy , pediatrics , psychiatry , epilepsy
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. © 2009 Wiley‐Liss, Inc.