Abstract
The Rubinstein-Taybi syndrome is a classical multiple congenital anomaly syndrome. The classical gestalt is striking and poses few diagnostic problems, but sometimes diagnosis is extremely difficult. In this paper the change in facial appearance of affected individuals is demonstrated, to improve insight into the evolution of the phenotype and to increase its diagnostic potential.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have