The Rubinstein-Taybi syndrome: a report of two cases.

Most of these cases were from North America, and the purpose of this paper is to present a further two cases, one from the United Kingdom and the other from Afghanistan, both being diagnosed at birth. The constellation of congenital anomalies enumerated in the original paper includes abnormal thumbs and great toes, a characteristic facies, and mental retardation. Car- diac, renal, skeletal, and first arch defects were also described and more recently abnormal dermato- glyphic patterns have been found (Robinson et al., 1966; Berg et al., 1966). There is now sufficient evidence to state that the association of congenital anomalies as originally described constitutes a definite syndrome of unknown aetiology, and its early recognition by the physician is important when the problem of counselling the parents is considered.