Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical

In 1963, Rubinstein and Taybi first described Rubinstein-Taybi syndrome (RSTS) (Mendelian Inheritance in Man [MIM] #180849). Rubinstein-Taybi syndrome is a well-delineated malformation syndrome characterized by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

Rubinstein‐Taybi syndrome and spontaneous keloids - Goodfellow - 1980 - Clinical and Experimental Dermatology - Wiley Online Library

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

Rubinstein-Taybi Syndrome

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening

Rubinstein-Taybi syndrome: Multisystem involvement and its clinical

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

JCDR - Rubinstein Taybi Syndrome, Oro-facio-dental findings