Rubinstein-Taybi syndrome: a history in pictures.
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.
Hennekam
R C
RC
Clinical Genetics Center Utrecht, The Netherlands.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D010781:Photography; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis*; D014034:Toes / Q000002:abnormalities