Rubinstein-Taybi syndrome in the neonate.
Since the first description by Rubinstein and Taybi in 1963 more than 250 cases of this syndrome have been reported in the literature, but only few cases in the neonate. We present a patient with the typical clinical aspect who was diagnosed at birth. Early recognition of this condition is important for counselling the parents.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012415:Rubinstein-Taybi Syndrome / Q000000981:diagnostic imaging; D012886:Skull / Q000000981:diagnostic imaging