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

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.

• Authors: Rachel A Nelson, Michelle McNamara, William Ellis, Rebecca Stein-Wexler, Billur Moghaddam, Theodore Zwerdling
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 10 Pg. 2265-9 (Oct 2009) ISSN: 1552-4833 [Electronic] United States
• PMID: 19764022 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Child, Preschool
• Craniofacial Abnormalities (complications, diagnosis)
• Developmental Disabilities (complications, diagnosis)
• Ganglioglioma (complications, diagnosis)
• Growth Disorders (complications, diagnosis)
• Humans
• Language Development Disorders (complications, diagnosis)
• Male
• Spinal Cord Neoplasms (complications, diagnosis)
• Syndrome