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ARTICLE
ABSTRACT
RubinsteinTaybi syndrome (RTS) occurs
in one out of 300,000 individuals. It is
mainly characterized by a delay in
growth, psychomotor retardation,
duplication of the distal phalanx of the
thumbs, typical facial dimorphism, a
risk of cancer, and multiple dental
abnormalities. This case report
describes the dental management of a
13-year-old female with RTS, who had
multiple dental problems such as caries,
periodontal disease, and a severe
malocclusion. Physical findings were
similar to those previously described
in other reports. Dental treatment was
carried out under sedation due to the
patients inability to cooperate during
dental treatment. After 3 years of
follow-up there were no new caries and
the periodontal health had improved.

KEY WORDS: RubinsteinTaybi

syndrome, broad thumbhallux syndrome

124 S p e c C a re D e n t i s t 3 0 ( 3 ) 2 0 1 0

Dental management of a patient with

RubinsteinTaybi syndrome
Mariana C. Morales-Chvez, MSc*
Pediatric Dentist, Department of Pediatric Dentistry, Santa Maria University, Caracas, Venezuela.
*Corresponding author e-mail: macamocha@hotmail.com
Spec Care Dentist 30(3): 124-126, 2010

Introduction
RubinsteinTaybi syndrome (RTS), or broad thumb-hallux syndrome, was initially
described by Michail et al.1 in 1957. In 1963, Rubinstein and Taybi reported on seven
cases of this syndrome,2 which included a group of congenital anomalies.1 RTS is a rare
congenital syndrome that occurs in 1/125,000300,000 individuals.3-5 Only a few cases
have been reported in the literature; however, there are data on over 1,000 patients
worldwide with both male and female being affected.3

At present, the hereditary pattern has

not been determined. Eighteen different
chromosomal anomalies have been identified in some patients with this syndrome.
RTS is sporadic in nature and has been
related to microdeletion at 16p13.3
encoding CREB-binding protein gene
(officially named CREBBP but generally
referred to by a shorter acronym CBP).5-7
All of the studies concerning CBP genes
in patients with RTS have shown that
translocations and inversions constitute
the minority of CBP gene mutations in
these patients. Microdeletions, however,
represent approximately 1025% of the
cases reported.5,7-8
The main distinctive features most
commonly linked to this syndrome are
downward sloping palpebral fissures,
broad thumbs and halluces, growth retardation and psychomotor developmental
delay, typical facial dysmorphism, hypertelorism, a prominent forehead, and
mental disability. Other features, such as
cardiac abnormalities, metabolic alterations, ophthalmologic and
gastrointestinal problems, and an
increased risk of neoplasias have been
observed.8-9 In fact, Miller and
Rubinstein reviewed 724 individuals
with this syndrome and found 17 malig-

nant and 19 benign tumors among

them.10 Twelve out of the 17 malignancies were found in the nervous system,
including two neuroblastomas.
Oral manifestations of this syndrome
include limited mouth opening, a pouting lower lip, retro/micrognathia, a high
arched and narrow palate, cleft uvula and
palate, and rarely a cleft upper lip.
Dental abnormalities occur in 67% of
individuals with RTS, and can include
hypodontia, hyperdontia, maintenance of
deciduous teeth, talon cusps, and enamel
hypoplasia. An increased rate of caries
and periodontal disease has been
reported in these patients.11-13 However,
periodontal disease has not always been
associated with this syndrome. Freitas
et al.3 reported severe periodontitis in a
patient with this syndrome due to
immunological deficiencies from an
alteration of the T and B cells and the
phagocytic system.
Dental treatment is generally complicated due to difficulties in managing the
patients behavior. In most patients with
this syndrome, it is necessary to carry
out the dental treatment under sedation
or general anesthesia. It is important to
know that these patients might have
upper respiratory obstruction during

2010 Special Care Dentistry Association and Wiley Periodicals, Inc.

doi: 10.1111/j.1754-4505.2010.00137.x

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Figure 1. This photograph shows the facial

features of the 13-year-old girl, which include
lateral sloping palpebral fissures and a broad
nasal bridge. What cannot be seen is the
posterior rotation of the ear with bending of
the helix.

sleeping or sedation because of the

anatomical characteristics of their maxillofacial region due to hypotonia, small
nasal passages, retrognathia, micrognathia, and hypertrophy of the tonsils
and adenoids. For these reasons,
anesthesiologists should be aware of
the complexity of the airway of these
patients and the difficulties of intubation.
The management of these patients
is a challenge because they have an
increased risk of aspiration and posterior
pneumonia, respiratory obstruction or
bronchospam during sedation, or general
anesthesia.3-7

Case repor t
The patient was a 13-year-old
Venezuelan girl, the third child of a
remote consanguineous couple. Her two
older sisters had no signs of dental
anomalies. The patient was born at term,
weighing 3 kg 130 g. Her genetic evaluation concluded that she had a
microdeletion at 16p13.3. Her psychomotor development was delayed but
she started speaking at a normal age. The
girl had strabismus and recurrent respira-

Morales-Chvez

Figure 2. This photograph shows the dentition

in occlusion and shows the malposition and
crowded teeth and the displacement of the
mandibular canine on the left side. The midlines of the maxilla and mandible do not
coincide.

Figure 3. This photograph is a panoramic

radiograph of the dentition prior to treatment
showing the malpositioned teeth, caries, and
the abscess associated with the left mandibular
molar.

tory infections. However, she had no

other medical complications unlike the
majority of persons with RTS.
The patient had a short stature. Her
weight, height, and body mass index
were below normal. She also had broad
thumbs, downward lateral sloping of the
palpebral fissures, a broad nasal bridge,
hypertelorism, and posterior rotation of
ear with bending of the helix (Figure 1).
The oral characteristics were micrognathia, a high arched and narrow palate,
an open bite, and a deep overjet. She also
had enamel hypoplasia, some malpositioning, and crowded teeth. The anterior
tooth midline in the maxilla and
mandible did not coincide and she had
an ectopic mandibular canine. The
patient also had multiple carious lesions
with several destroyed teeth. She had a
dentoalveolar abscess of the left
mandibular first molar. Heavy calculus
and plaque were deposited on all the
teeth. The marginal gingiva were severely
swollen and probing resulted in profuse
gingival bleeding (Figures 2 and 3).
Due to the difficulties in the patients
behavior and her inability to cooperate
during dental treatment due to her
mental disability, it was decided that conscious sedation using ketamin and
doricum would be used by a pediatric
anesthesiologist for patient management
during dental treatment. All four first
molars were extracted because they were
carious and had morphological anomalies. Restoration of these teeth would

have been complicated. In addition, the

mandibular left molar had a dentoalveolar abscess, which was difficult to treat
endodontically. The extraction of the first
molars allowed for the proper eruption
of the displaced mandibular left canine
and first premolar. The extractions made
room for the crowded teeth since orthodontic treatment had been ruled out as a
treatment option due to the patients
mental condition. Periodontal treatment
was carried out with a dental ultrasonic
scaler, followed by the application of
sealants in the fissures of the healthy
teeth and fluoride varnish was used on
all the teeth.
The patient experienced respiratory
difficulties during sedation, which was
treated by the anesthesiologist on duty,
without any negative sequelae. In the initial treatment plan, the use of aesthetic
restorations in the anterior teeth, which
had hypoplasia, was planned. However,
as a result of the respiratory emergency,
it was decided only to do the urgent
treatment. After 2 hours of recovery,
detailed oral instructions regarding oral
hygiene were given to the patient and
her mother.
The patient attended follow-up
sessions every 6 months for the next
3 years. Evidence of improved dental
hygiene was observed as no new caries
were found. The malocclusion improved
with time as all the mandibular teeth
were better positioned. Nevertheless, the
open bite persisted because correcting it

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Figure 4. This photograph shows the dentition

in occlusion 3 years after treatment and with
the extraction of the first molars, the displaced left premolar, and canine have erupted
into a reasonable alignment.

would require orthodontic treatment,

which would be difficult due to the
patients mental disability. Her gingivitis
was also difficult to control. However,
at every dental checkup, oral hygiene
technique recommendations were made
to both the patient and her parents
(Figure 4).
Despite her poor oral hygiene and
lack of cooperation with respect to oral
and dental care at the beginning of the
treatment, after 3 years, the patient did
not present any new caries and had
improved periodontal health. This
improvement was due to the awareness
of the parents as well as the maturity and
collaboration of the patient.

Discussion
The 13-year-old girl described in this
article was diagnosed with RTS associated
with a microdeletion at 16p 13.3
chromosome, which occurs in approximately 25% of cases.5,7-8 This patient
presented several clinical manifestations of
RTS, which have previously been well
documented. She did not have any cardiac
abnormalities, which are frequently found
in 2438% of children with RTS.3,6,8
Intraoral findings included reduced
oral opening, a narrow palate, malocclusion, gingivitis, and caries. The literature
reports that patients with RTS have an
increased rate of caries (15% to 36%)
because of their poor oral hygiene,

126 S p e c C a re D e n t i s t 3 0 ( 3 ) 2 0 1 0

which was similar to our patient.7,10

Malposition and crowded teeth are present in 62% of patients with RTS. In fact,
this was one of the most important problems in our patient.11
Normally, it is necessary to heavily
sedate or use general anesthesia to treat
the dental problems of these children.
However, it is important that a pediatric
anesthesiologist is present during treatment, because respiratory emergencies
are very common, as exemplified during
the treatment of our patient.3-4,8,11
The patient suffered a bronchospasm
and had to be medicated during the
emergency.
The management protocol scheduled
for this patient might seem a little
aggressive, because we extracted all four
first molars. However, an evaluation of
the patients occlusion indicated extractions would improve the crowding and
allow access for the left mandibular
canine to drift back into the arch. This
dental redistribution improved and simplified the patients oral hygiene and
consequently, reduced her caries and
periodontal disease rates.
The 3-year follow-up showed no new
caries and an improvement of periodontal health. This was probably due to a
better alignment of the teeth as a result
of the extractions of the first molars. It is
also noteworthy to mention that, as previously reported, it is necessary to
improve both daily oral hygiene and
institute preventive measures, which are
required for patients with RTS. Because
of their mental disability and other psychomotor deficiencies, daily brushing is
difficult for them.

References
1.

2.

3.

4.

5.

6.

7.

8.

9.

10.

11.

Conclusion
There are few case histories reported
in the literature on the treatment of
patients with RTS. We achieved a
successful result over a 3-year period
because the oral problems of our patient
were managed aggressively, we emphasized daily oral hygiene to the patient
and her parents, and we also focused on
preventive care during her checkups.

12.

13.

Michail J, Matsoukas J, Theodorou S. Pouce

bot argue en forte abduction-extension et
autres symptons concomitans. Revue de
chirurgie orthopedique et reparatice de lappareil moteur 1957;43:142-46.
Rubinstein JH, Taybi H. Broad thumbs and
toes and facial ormalities: a possible mental
retardation syndrome. Am J Dis Child
1963;105:588-608.
Freitas NM, Imbronito AV, La Scala CS,
Lotufo RF, Pustiglioni FE. Periodontal disease in a Rubinstein-Taybi syndrome
patient: case report. Int J Paediatr Dent
2006;16:292-96.
Altintas F, Cakmakkaya S. Anesthetic management of a child with Rubinstein-Taybi
syndrome. Pediatr Anesth 2004;14:610-11.
Coupry I, Roudaut C, Stef M, et al.
Molecular analysis of the CBP gene in
60 patients with Rubinstein-Taybi syndrome.
J Med Genet 2002;39:415-21.
Snchez Lzaro J, Snchez Herrez S, Daz
Gllego L, Gamazo Caballero E, Fernndez
Daz J. Spontaneous patella dislocation in
Rubinstein Taybi Syndrome. The Knee
2007;14:68-70.
Hsiung S. RubinsteinTaybi syndrome
(broad thumb hallux syndrome). Dermatol
Online J 2006;10:2.
Wiley S, Swayne S, Rubinstein JH, Lanphear
NE, Stevens CA. Rubinstein-Taybi syndrome
medical guidelines. Am J Med Genet
2003;119A:101-10.
Ihara K, Kuromaru R, Takemoto M, Hara T.
Rubinstein-Taybi syndrome: a girl with a
history of neuroblastoma and premature thelarche. Am J Med Genet 1999;83:365-66.
Miller RW, Rubinstein JH. Tumors in
Rubinstein-Taybi syndrome. Am J Med Genet
1995;56:112-15.
Davidovich E, Eimerl D, Peretz B. Dental
treatment of a child with Rubinstein-Taybi
syndrome. Pediatr Dent 2005;27:385-88.
Hennekam RC, Van Doorne JM. Oral aspects
of Rubinstein-Taybi syndrome. Am J Med
Genet Suppl 1990;6:42-47.
Bloch-Zupan A, Stachtou J, Emmanouil D,
Arveiler B, Griffiths D, Lacombe D. Orodental features as useful diagnostic tool in
Rubinstein-Taybi syndrome. Am J Med Genet
A 2007;143:570-73.

M a n a g e m e n t o f R u b i n s t e i n - Ta y b i s y n d ro m e

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