Abstract
In 1963, Rubinstein and Taybi described seven children with a constellation of con-genital anomalies consisting of short, broad terminal phalanges of the thumbs and great toes, mental retardation, peculiar faces, and highly arched palate. Thereafter in 1964, Coffin reported in detail six cases with a similar condition, and at that time he referred to the cases as Rubinstein's syndrome. This report is about a patient with this syndrome who is probably the oldest in age among cases described in Japan. The patient is a presumed 25-30 year-old male. He is short, measures 153 cm. in height and weighes 57 kilograms. Peculiar face, prominent forehead, antimongoloid slanting of the palpebral fissures, left ptosis, bushy eyebrows, retrognathia, broad nose with flat base and highly arched palate were noted. The thumbs are short and broad, the forefingers and middlefingers also have a tendency to be broad and short. The great toes and second toes are abnormally wide, the fourth toes brachydactylic. His muscles are hypotonic. The spine shows kiphosis, fusion of the first and second ribs was noted at their sternal end. The electroencephalogram showed non-paroxysmal diffuse dysrhythmia. Psychological testing revealed severe mental retardation (IQ, 26). The patient was able to understand simple commands and follow light direction, but was very poor in vocabulary and almost unable to communicate verbally. Therefore, expressive language was particularly retarded in this patient. The etiology of this syndrome has not been confirmed yet. However, from the fin-dings of two sets of affected sibling cases and the probable monozygotic concordant case of this syndrome recently reported by Pfeiffer, it is highly likely due to the genetic factor.
