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As a pediatrician and radiologist, I developed a special interest in syndromology before and after I started practicing and teaching at Oklahoma University in 1960. My interest in this area resulted in my participation in
the description of three new syndromes: broad thumb-hallux syndrome or RTS, otopalatodigital syndrome and cephaloskeletal dysplasia.
During a visit to to University of Oklahoma by Dr. Frederic Silverman, I presented the history and radiographs of a child with mental retardation, broad thumbs and toes, and unusual facial features. I was considering
preparing a case for publication. Dr. Silverman informed me that Dr. Rubinstein had observed similar findings in two patients and was looking for more cases. Following Dr. Silverman’s return to Cincinnati, Dr.
Rubinstein and I communicated and prepared our first paper that I presented at the annual meeting of the Society for Pediatric Radiology in 1962. It is interesting that more than 3 decades later, in two historical papers
written by Professor N.T. Griscom of Harvard University (related to Centennial of Discovery of X-Ray by Roentgen: 1895-1995) our presentation in 1962 was chosen among the four papers “that are still meaningful thirty years
later”. The summary of our presentation was published in one of Professor Griscom’s papers.
My interest in syndromology resulted in the preparation and publication of a book on syndromes in 1975. The fourth edition, published in 1996 is much expanded, containing more than a thousand syndromes, metabolic
disorders, and skeletal dysplasias. In addition, another 1250 entities are included in the GAMUTS
section (differential diagnosis of clinical and radiologic signs and symptoms). In this edition of the book, I have given reference to the First International Family Conference on Rubinstein-Taybi Syndrome organized by Cincinnati Center for Developmental Disorders and RTS Parent Group. My new “Handbook
of Syndromes and Metabolic Disorders: Radiologic and Clinical Manifestations” was published a few months ago. It is prepared primarily for physicians in training and doctors in private practice who may not have access to the more extensive volume.
Radiologic manifestations of RTS are non-specific. For example in the GAMUTS
section of my book you can find 20 entities with broad thumbs and eight entities with broad toes. Other skeletal abnormalities such as angulation and deformity of the thumbs and great toes may occur in other disorders. Medical imaging is very helpful in detecting cardiovascular, urinary system, central nervous system and lung diseases in RTS.
Speaking of the role of the radiologist in this syndrome for non-physicians, I would like to refer to what I noted a few months ago on the Internet about the historical aspect of this syndrome. It stated that Dr.
Rubinstein made the clinical observation and Dr. Taybi took the X-rays. A correction is needed here: (1) radiographs with some exceptions are taken by technologists, not by radiologists; (2) Dr. Rubinstein practiced in
Cincinnati and the radiologist he consulted was most likely Dr. Silverman. My clinical and radiologic observations were made at Oklahoma University and Indiana University, and our two papers were published in a clinical
journal (American Journal of Diseases of Children; 1963) and a radiologic journal (American Journal of Roentgenology; 1965).
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