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.
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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)
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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
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