Overlap between Rubinstein-Taybi and Saethre-Chotzen syndromes: a case report.
This report concerns a 14-year follow-up of a patient whose clinical manifestations led to a diagnosis of Rubinstein-Taybi syndrome; however, his intelligence is normal. Reappraisal resulted in a change of diagnosis to Saethre-Chotzen syndrome. Overlapping manifestations in the 2 syndromes are discussed.
Lowry
R B
RB
Department of Pediatrics, University of Calgary, Alberta, Canada.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D007360:Intelligence; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis*; D013577:Syndrome