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Rubinstein-Taybi syndrome

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Rubinstein-Taybi syndrome
[ro̅o̅′binstīn tā′bē]
Etymology: Jack Herbert Rubinstein, American pediatrician, b. 1925; Hooshang Taybi, American radiologist, b. 1919
a congenital condition characterized by mental and motor retardation; broad thumbs and great toes; short stature; characteristic facies, including high-arched palate and straight or beaked nose; various eye abnormalities; pulmonary stenosis; keloid formation in surgical scars; large foramen magnum; and abnormalities of the vertebrae and sternum.


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Rubinstein-Taybi syndrome affects only one in 125,000 children and the symptoms vary.
Though the Wellington High School student understands more than he can verbalize due to the effects of Rubinstein-Taybi syndrome, a congenital, neurological condition that affects his motor coordination and his ability to speak and process language.
Their elder son Liam suffers from Rubinstein-Taybi syndrome, a rare condition which affects just three babies in every million.
 
 
 
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