The Big Blue Book - 1998 International Family Conference

Disclaimer: This book was created after the 1998 Family Conference.  The articles are important to all of those involved with RTS.  This is online without permission from Dr. Rubinstein and the Cincinnatti Rubinstein-Taybi organization.  They would prefer that you call Dr. Rubinstein at  1-800-344-2462 ext. 4621 and request a copy of the book.  I would encourage everyone, especially those with a child who has RTS to call the above number and request a copy of this book.  I have been reassured by Mark Shannon that this book will be sent to anyone who requests it, regardless of country.
All the information from the book is not online (another reason to call and request the book).  Left out are articles which are copyrighted or are not appropriate for the web site (includes list of attendees).  All articles which are deemed “public domain” are included..
Diane Wardlow

Historical Overview of the
Broad Thumb-Hallux (Rubinstein-Taybi) Syndrome

Jack H. Rubinstein, M.D.
Director of the RTS Program
The University Affiliated Cincinnati Center
For Developmental Disorders
Professor Emeritus, Department of Pediatrics
University of Cincinnati

1998 marks the 35th anniversary of Dr. Taybi’s and my 1963 publication describing the Broad Thumb-Hallux Syndrome. This evening we would like to share with you our experiences on the early history of the syndrome.

In 1957, Michail Matsoukas and Theodorou from Athens, Greece described in a French orthopedic journal a 7-year old boy with radially deviated arched thumbs. Associated findings included mental deficiency, “comical” face, long “Cyrano-type” nose, muscular hypotonia, cyptorchidism, flat feet, physical underdevelopment and funnel chest. 1

Unfortunately, since I did not routinely read the French orthopedic journals, I was not aware of the excellent case report when, in 1957 I evaluated the 18th child seen in what was then our newly opened diagnostic clinic.  She was a 3-1/2 year old girl with slightly unusual facial and digital findings (Fig. 1, Case 1).

 In 1958,I saw the 41st child at our clinic, a 7-year-old boy for diagnostic (Fig 1, Case 2). I felt that these two unrelated children resembled each other closely enough to make one wonder if they might not have the same syndrome.

In 1959-1960, I tried to gather other examples of the possible “syndrome” by distributing the two case histories and photos to other clinics in the United States. There were almost no responses.

In January 1960, Dr. W.C.l Marshall of the Hospital for Sick Children, Great Ormond Street London, at the suggestion of Dr. Josef Warkany of Cincinnati, sent me photos o n two unrelated children that he had seen.  They indeed seemed to resemble the two children that I had seen; however, their radially deviated thumbs were different from my two cases, so I wasn’t completely certain.

In 1960, I passed our waiting room and saw an 8-1/2 year old girl whom I was certain was Case #1, but a few years older (Fig. 1, Case 4).

I first met Dr. Hooshang Taybi in 1955, when he was in the Pediatric Radiology Training, and I was in Pediatric Training at Children’s Hospital in Cincinnati.

In 1961, Dr. Taybi, who was then at the University of Oklahoma sent information, photos and x-rays on a fourth child -- Case 31, a 3 year old boy (Fig. 2, Case 3).

In 1963, Dr. Taybi and I reported on seven children, 2 girls and 5 boys, that we had seen with broad thumbs and great toes together with “unusual” facial features as a possible mental retardation syndrome (Fig 3).  In June 1963, the series by Dr. JohnsonChest. 4 were published.

In 1983, ten years after our initial publication, a letter to the editor entitled “Fatherhood of the so-called Rubinstein-Taybi Syndrome” by Dr. Matsoukas suddenly appeared which made me acutely aware of the 1957 Greek article.

Figure 1

Figure 2: Case 3

Findings in Broad Thumb Hallux Syndrome

  1. Mental retardation
  2. Broad thumbs and broad first toes
  3. Retarded height, bone age, microcrania
  4. Unusual facial features: eyes, nose, palate
  5. Cryptorchidism in males


1.)  Michail J., Matsoukas J., Theodorou S. (1957): Pouce bot argue en forte abduction-extension et autres symptoms concomitants. Rev Chir Orthop 43: 142-146.

2.)  Rubinstein JH, Taybi H (1963): Broad thumbs and toes and facial abnormalities: A possible mental retardation syndrome. AM J Dis Child 105:588-608.

3.) Coffin GS (1964): Branchydactyly, peculiar facies and mental retardation. AM J Dis Child 108:351-359.

4.)  Johnson CF (1966): Broad thumbs and broad great toes with facial abnormalities and mental retardation.  J Pediatr 68:942-951.

5.)  Matsoukas J (1973): Fatherhood of the so-called Rubinstein-Taybi syndrome, Am J Dis Child 126:860

Proceedings Site

This information is in the public domain unless otherwise indicated.  Readers are encouraged to copy and share it, but please credit The Proceedings for the 1998 International Family Conference on Rubinstein-Taybi Syndrome.

UACCDD receives major support from the Hamilton County Mental Retardation Service Levy.  Additional funding sources include: United Way and Community Chest; Maternal and Child Health Bureau and the Administration on Developmental Disabilities of the Department of Health and Human Services; other county, state, and federal agencies; foundations; and individual contributions.
The 1998 International Family Conference on Rubinstein-Taybi Syndrome is very grateful for the generous support of The Special Friends Foundation

This document was added to the Rubinstein-Taybi web site in November 2000.

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