Rubinstein-Taybi syndrome

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[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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multiple malformation syndromes

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