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

Dental Implications of
Rubinstein-Taybi Syndrome

Poster Presentation:

Presented at the 1998 International Family Conference on Rubinstein-Taybi Syndrome,
July 10-13, 1998
Cincinnati, Ohio

Prepared by:

John K. Pershing, D.D.S., M.S.
Matthew J. Pershing

Introduction:

Rubinstein-Taybi syndrome or RTS is a specific pattern of physical features and disabilities which were first described in 1963 by Dr. Jack H. Rubinstein and Dr. Hooshang Taybi.  Since then over 400 cases have been reported.  The true incidence is still unknown, but it is estimated to be 1 in every 300,000 live births equal in both sexes.  As of yet the cause of RTS is still unknown. Without a specific genetic marker for the syndrome one must rely on the clinical features for diagnosis (table 1). RTS also has many medical comlications associated with it (table 2). These complications lead to many hospitalizations and surgeries, 10 times that of normal children. Persons with RTS also experience special dental problems (table 3).  These problems are unique and require special care.

The purpose of this table clinic is to inform the dental professional of the special care and treatment needed by RTS patients.

Methods and Materials

• Use of articles and publications for review.
• Comparison of three RTS patients orthodontic records and treatment.

Table 1
Clinical Features of Persons with RTS

Table 2
Medical Conditions of Persons with RTS

Eye problems..............................................................................84%
Cardiac anomalies.......................................................................38%
Keloid formation..........................................................................28%
Severe constipation......................................................................54%
Mild Hearing loss..........................................................................24%
Apnea/irregular breathing..............................................................24%
Kidney/urinary..........................................................................28-52%

Table 3
Oral Features of Persons with
Rubinstein-Taybi Syndrome

• Small mouth
• Thin upper lip
• Pouting lower lip
• Retrognathia
• High arched narrow palate
• Malpositioned crowded teeth
• Talon cusps
• High caries rate

Patient Evaluation:

Patient #1 *        Caucasian, Male, Date of birth: 9-7-83

Chief concerns:   Small mouth, overcrowding, and a high arched palate.

Medical history:   Six (6) congenital heart defects, asthma, G-E reflux, Rubinstein-Taybi syndrome, non-verbal.  

Diagnosis:  Class III with posterior open bite and posterior crossbite with minimal overjet and overbite.  Maxillary right first molar has drifted mesially and is rotated.  Severe overcrowding with the permanent cuspids blocked from eruption. Maxilla is moderately retrognathic and the mandible is mildlmidly retrognathic.

Treatment and Modifications: Crowding was corrected through four bicuspid extractions and alignment. Posterior crossbite was not correctable with the use of Rapid Palatal Expansion, confirmed by radiograph.  Surgical procedure was the next option, but rejected due to the patient’s health history and mental capacity.  Reasons for failure to split can only be speculated.  RTS patients have bony deformation of hands and feet and are born with head circumference (OFC) that rank int he 2nd centile at birth and throughout childhood are approximately 4 standard deviations below the mean.  This growth pattern may suggest the lack of normal sutures in the face and head.  The posterior occlusion was closed and functional following vertical elastics, but relapsed after discontinuation of elastic wear.  The most likely cause for this instability is mouth breathing and low tongue posture as well as the patient’s lack of speech function.

Patient #2  **                  Caucasian, Male, Date of birth: January, 1979

Chief concerns:             Crowded anterior teeth and posterior crossbite.

Medical history:            Cardiac enlargement, constricted breathing, iron deficiency, pneumonia, idiopathic urticaria, tonsilloadenoidectomy, Rubinstein-Taybi syndrome.

Diagnosis:                       Class II division 1 with posterior bilateral crossbite, deep vault, deformed upper lateral incisors (demonstrating talon cusps), crowding in both arches, and airway constriction.

Treatment and modifications:  Airway constriction was resolved by surgery prior to treatment.  Extraction of maxillary first bicuspids, mandibular impacted second molars and impacted maxillary third molars to help relieve crowding and future surgery.  Surgically assisted Rapid Palatal e xpansion was planned to attempt correction of the posterior crossbite.  During surgery external root resorption was noticed on the CEJ of the maxillary lateral incisors.  RPE was removed and surgery aborted.  Lateral incisors on further investigation were found to have internal coronal resorption secondary to dense-in-dente (talon cusps).  They were extracted and a maxillary Hawley retainer with prosthetic replacement of lateral was placed.  At this point the patient was taken out of active treatment due to the fact that any further orthodontic treatment might lead to external resorption and loss of more teeth.  The final result was not as expected but satisfactory to the patient and parents.

Patient #3 ***                           Caucasian, Male, Date of birth July, 1979

Chief concerns:                         Requests dentition to look as normal as possible and eliminate crowding to improve ability to clean teeth.

Medical History: Rubinstein-Taybi syndrome, mentally handicapped.

Diagnosis:                                  Class II, division significant malocclusion, crowding of maxillary arch, overjet of 11 mm, mandibular right second molar impacted mesially, and third molars absent.

Treatment and modifications: Ideally treatment would be orthodontics and mandibular jaw surgery, but not a practical option for this patient.  Extraction of maxillary first premolars to help close down over jet and align teeth.  Rapid Palatal Expansion to help correct malocclusion went as expected.  Mandibular second molars were extracted due to eruption problems.  Patient is still in active treatment to this date.

Conclusions:

Rubinstein-Taybi syndrome is very complex and unique in its dental ramifications.  In the patient observation it is apparent that an ordinary treatment approach will not work.  Modifications for medical problems need to be high on the list of conerns.  Surgery was a visable treatment option for patients @1 and #3, but was not used due to RTS related medical problems.  In the case of patients #1 and #2 we saw problems with the palatal expansion, mostl ikely due to the syndrome.  RTS patients have many bone deformities that may suggest the lack of normal sutures int he face and cranium.  The syndrome also carries a special need for joint cooperation of the parents and the patient to keep the oral hygiene in good standing.  Most RTS patients are happy and affectionate people that are willing to work hard on treatment with the dentist.

Acknowledgment:

*     Patient of John K. Pershing, D.D.S., M.S.; Hastings Nebraska.

**   Patient of L.G. Richter, D.M.D. and K. Daniel Subtelny, D.D.S., M.S.; University of Rochester Medical Center, Rochester, New York.

***  Patient of Vincent G. Kokich, D.D.S., M.S.E.; University of Washington, Seattle, Washington.

Replication:
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.

Funding:
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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