New Rubinstein-Taybi Syndrome Study Results from University of Pittsburgh Described (Neurosurgical Management of Rubinstein-taybi Syndrome: an Institutional Experience).

Předmět:	NEUROLOGICAL disorders CONGENITAL disorders MUSCULOSKELETAL system diseases CRANIOFACIAL abnormalities ARNOLD-Chiari deformity
Zdroj:	Genomics & Genetics Weekly; 10/18/2024, p1133-1133, 1p
Abstrakt:	A recent study conducted at the University of Pittsburgh focused on Rubinstein-Taybi Syndrome (RTS), a rare genetic condition characterized by distinct physical features. The study examined a series of RTS cases and highlighted the role of neurosurgery in managing these patients. The research found that the majority of patients had CREBBP pathogenic variants, and a significant number of patients had low-lying conus medullaris and Chiari malformation. The study concluded that RTS patients have a high incidence of symptomatic Chiari I malformation and tethered cord syndrome. [Extracted from the article]
Databáze:	Complementary Index
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