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124 Spec Care Dent is t 30(3) 2010 2010 Special Care Dentistry Association and Wiley Periodicals,doi: 10.1111/j.1754-4505.2010.001

M A N A G E M E N T O F R U B I N S T E I N - T A Y B I S Y N D R O M E

A R T I C L E

A B S T R A C T

RubinsteinTaybi syndrome (RTS) occurs

in one out of 300,000 individuals. It is

mainly characterized by a delay ingrowth, 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.

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

At present, the hereditary pattern hasnot been determined. Eighteen differentchromosomal anomalies have been identi-fied in some patients with this syndrome.RTS is sporadic in nature and has beenrelated to microdeletion at 16p13.3encoding CREB-binding protein gene

(officially named CREBBP but generallyreferred to by a shorter acronym CBP).5-7

All of the studies concerning CBP genesin patients with RTS have shown thattranslocations and inversions constitutethe minority of CBP gene mutations inthese patients. Microdeletions, however,represent approximately 1025% of thecases reported.5,7-8

The main distinctive features mostcommonly linked to this syndrome aredownward sloping palpebral fissures,broad thumbs and halluces, growth retar-

dation and psychomotor developmentaldelay, typical facial dysmorphism, hyper-telorism, a prominent forehead, andmental disability. Other features, such ascardiac abnormalities, metabolic alter-ations, ophthalmologic andgastrointestinal problems, and anincreased risk of neoplasias have beenobserved.8-9 In fact, Miller andRubinstein reviewed 724 individualswith this syndrome and found 17 malig-

nant and 19 benign tumors amongthem.10 Twelve out of the 17 malignancies were found in the nervous systemincluding two neuroblastomas.

Oral manifestations of this syndroinclude limited mouth opening, a pouing lower lip, retro/micrognathia, a hi

arched and narrow palate, cleft uvula palate, and rarely a cleft upper lip.Dental abnormalities occur in 67% ofindividuals with RTS, and can includehypodontia, hyperdontia, maintenancdeciduous teeth, talon cusps, and enahypoplasia. An increased rate of cariesand periodontal disease has beenreported in these patients.11-13 Howeveperiodontal disease has not always beeassociated with this syndrome. Freitaset al.3 reported severe periodontitis inpatient with this syndrome due to

immunological deficiencies from analteration of the T and B cells and thephagocytic system.

Dental treatment is generally compcated due to difficulties in managing tpatients behavior. In most patients withis syndrome, it is necessary to carryout the dental treatment under sedatioor general anesthesia. It is important tknow that these patients might haveupper respiratory obstruction during

I n t r oduc t i onRubinsteinTaybi syndrome (RTS), or broad thumb-hallux syndrome, was initiallydescribed by Michail et al.1 in 1957. In 1963, Rubinstein and Taybi reported on sevecases of this syndrome,2 which included a group of congenital anomalies.1 RTS is a rcongenital syndrome that occurs in 1/125,000300,000 individuals.3-5 Only a few cahave been reported in the literature; however, there are data on over 1,000 patientsworldwide with both male and female being affected.3

KEY WORDS: RubinsteinTaybi

syndrome, broad thumbhallux syndrome

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Mora les-Chvez Spec Care Dent is t 30(3) 2010 125

M A N A G E M E N T O F R U B I N S T E I N - T A Y B I S Y N D R O M E

sleeping or sedation because of theanatomical characteristics of their max-illofacial region due to hypotonia, smallnasal passages, retrognathia, microg-nathia, and hypertrophy of the tonsils

and adenoids. For these reasons,anesthesiologists should be aware ofthe complexity of the airway of thesepatients and the difficulties of intubation.The management of these patientsis a challenge because they have anincreased risk of aspiration and posteriorpneumonia, respiratory obstruction orbronchospam during sedation, or generalanesthesia.3-7

Case rep o r tThe patient was a 13-year-oldVenezuelan girl, the third child of aremote consanguineous couple. Her twoolder sisters had no signs of dentalanomalies. The patient was born at term,weighing 3 kg 130 g. Her genetic evalua-tion concluded that she had amicrodeletion at 16p13.3. Her psy-chomotor development was delayed butshe started speaking at a normal age. Thegirl had strabismus and recurrent respira-

tory infections. However, she had noother medical complications unlike themajority of persons with RTS.

The patient had a short stature. Herweight, height, and body mass indexwere below normal. She also had broadthumbs, downward lateral sloping of thepalpebral fissures, a broad nasal bridge,hypertelorism, and posterior rotation ofear with bending of the helix (Figure 1).

The oral characteristics were microg-nathia, a high arched and narrow palate,an open bite, and a deep overjet. She also

had enamel hypoplasia, some malposi-tioning, and crowded teeth. The anteriortooth midline in the maxilla andmandible did not coincide and she hadan ectopic mandibular canine. Thepatient also had multiple carious lesionswith several destroyed teeth. She had adentoalveolar abscess of the leftmandibular first molar. Heavy calculusand plaque were deposited on all theteeth. The marginal gingiva were severelyswollen and probing resulted in profusegingival bleeding (Figures 2 and 3).

Due to the difficulties in the patientsbehavior and her inability to cooperateduring dental treatment due to hermental disability, it was decided that con-scious sedation using ketamin anddoricum would be used by a pediatricanesthesiologist for patient managementduring dental treatment. All four firstmolars were extracted because they werecarious and had morphological anom-alies. Restoration of these teeth would

have been complicated. In addition, themandibular left molar had a dentoalveo-lar abscess, which was difficult to treatendodontically. The extraction of the firstmolars allowed for the proper eruptionof the displaced mandibular left canineand first premolar. The extractions maderoom for the crowded teeth since ortho-dontic treatment had been ruled out as atreatment option due to the patientsmental condition. Periodontal treatmentwas carried out with a dental ultrasonicscaler, followed by the application of

sealants in the fissures of the healthyteeth and fluoride varnish was used onall the teeth.

The patient experienced respiratorydifficulties during sedation, which wastreated by the anesthesiologist on duty,without any negative sequelae. In the ini-tial treatment plan, the use of aestheticrestorations in the anterior teeth, whichhad hypoplasia, was planned. However,as a result of the respiratory emergency,it was decided only to do the urgenttreatment. After 2 hours of recovery,

detailed oral instructions regarding oralhygiene were given to the patient andher mother.

The patient attended follow-upsessions every 6 months for the next3 years. Evidence of improved dentalhygiene was observed as no new carieswere found. The malocclusion improvedwith time as all the mandibular teethwere better positioned. Nevertheless, theopen bite persisted because correcting it

Figure 1. This photograph shows the facialfeatures of the 13-year-old girl, which includelateral sloping palpebral fissures and a broadnasal bridge. What cannot be seen is theposterior rotation of the ear with bending ofthe helix.

Figure 2. This photograph shows the dentitionin occlusion and shows the malposition andcrowded teeth and the displacement of themandibular canine on the left side. The mid-lines of the maxilla and mandible do notcoincide.

Figure 3. This photograph is a panoramicradiograph of the dentition prior to treatmentshowing the malpositioned teeth, caries, andthe abscess associated with the left mandibularmolar.

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126 Spec Care Dent is t 30(3) 2010 Management of Rubinste in-Tayb i syndro

M A N A G E M E N T O F R U B I N S T E I N - T A Y B I S Y N D R O M E

would require orthodontic treatment,which would be difficult due to thepatients mental disability. Her gingivitiswas also difficult to control. However,at every dental checkup, oral hygienetechnique recommendations were madeto both the patient and her parents(Figure 4).

Despite her poor oral hygiene andlack of cooperation with respect to oraland dental care at the beginning of thetreatment, after 3 years, the patient didnot present any new caries and hadimproved periodontal health. This

improvement was due to the awarenessof the parents as well as the maturity andcollaboration of the patient.

D i scu s s i onThe 13-year-old girl described in thisarticle was diagnosed with RTS associatedwith a microdeletion at 16p 13.3chromosome, which occurs in approxi-mately 25% of cases.5,7-8 This patientpresented several clinical manifestations ofRTS, which have previously been well

documented. She did not have any cardiacabnormalities, which are frequently foundin 2438% of children with RTS.3,6,8

Intraoral findings included reducedoral opening, a narrow palate, malocclu-sion, gingivitis, and caries. The literaturereports that patients with RTS have anincreased rate of caries (15% to 36%)because of their poor oral hygiene,

which was similar to our patient.7,10

Malposition and crowded teeth are pres-ent in 62% of patients with RTS. In fact,this was one of the most important prob-

lems in our patient.11

Normally, it is necessary to heavilysedate or use general anesthesia to treatthe dental problems of these children.However, it is important that a pediatricanesthesiologist is present during treat-ment, because respiratory emergenciesare very common, as exemplified duringthe treatment of our patient.3-4,8,11

The patient suffered a bronchospasmand had to be medicated during theemergency.

The management protocol scheduledfor this patient might seem a littleaggressive, because we extracted all fourfirst molars. However, an evaluation ofthe patients occlusion indicated extrac-tions would improve the crowding andallow access for the left mandibularcanine to drift back into the arch. Thisdental redistribution improved and sim-plified the patients oral hygiene andconsequently, reduced her caries andperiodontal disease rates.

The 3-year follow-up showed no newcaries and an improvement of periodon-tal health. This was probably due to a

better alignment of the teeth as a resultof the extractions of the first molars. It isalso noteworthy to mention that, as pre-viously reported, it is necessary toimprove both daily oral hygiene andinstitute preventive measures, which arerequired for patients with RTS. Becauseof their mental disability and other psy-chomotor deficiencies, daily brushing isdifficult for them.

Conc l u s i onThere are few case histories reportedin the literature on the treatment ofpatients with RTS. We achieved asuccessful result over a 3-year periodbecause the oral problems of our patientwere managed aggressively, we empha-sized daily oral hygiene to the patientand her parents, and we also focused onpreventive care during her checkups.

Re f e rence s1. Michail J, Matsoukas J, Theodorou S. Po

bot argue en forte abduction-extension e

autres symptons concomitans. Revue dechirurgie orthopedique et reparatice de lap

pareil moteur1957;43:142-46.

2. Rubinstein JH, Taybi H. Broad thumbs a

toes and facial ormalities: a possible men

retardation syndrome.Am J Dis Child

1963;105:588-608.

3. Freitas NM, Imbronito AV, La Scala CS,

Lotufo RF, Pustiglioni FE. Periodontal di

ease in a Rubinstein-Taybi syndrome

patient: case report. Int J Paediatr Dent

2006;16:292-96.

4. Altintas F, Cakmakkaya S. Anesthetic ma

agement of a child with Rubinstein-Tayb

syndrome. Pediatr Anesth 2004;14:610-1

5. Coupry I, Roudaut C, Stef M, et al.

Molecular analysis of the CBP gene in

60 patients with Rubinstein-Taybi syndro

J Med Genet 2002;39:415-21.

6. Snchez Lzaro J, Snchez Herrez S, D

Gllego L, Gamazo Caballero E, Fernnd

Daz J. Spontaneous patella dislocation i

Rubinstein Taybi Syndrome. The Knee

2007;14:68-70.

7. Hsiung S. RubinsteinTaybi syndrome

(broad thumb hallux syndrome). Derm

Online J2006;10:2.

8. Wiley S, Swayne S, Rubinstein JH, Lanph

NE, Stevens CA. Rubinstein-Taybi syndr

medical guidelines.Am J Med Genet

2003;119A:101-10.

9. Ihara K, Kuromaru R, Takemoto M, Hara

Rubinstein-Taybi syndrome: a girl with a

history of neuroblastoma and premature

larche.Am J Med Genet 1999;83:365-66.

10. Miller RW, Rubinstein JH. Tumors in

Rubinstein-Taybi syndrome.Am J Med G

1995;56:112-15.

11. Davidovich E, Eimerl D, Peretz B. Denta

treatment of a child with Rubinstein-Tay

syndrome. Pediatr Dent 2005;27:385-88.12. Hennekam RC, Van Doorne JM. Oral asp

of Rubinstein-Taybi syndrome.Am J Med

Genet Suppl 1990;6:42-47.

13. Bloch-Zupan A, Stachtou J, Emmanouil

Arveiler B, Griffiths D, Lacombe D. Oro-

dental features as useful diagnostic tool

Rubinstein-Taybi syndrome.Am J Med G

A 2007;143:570-73.

Figure 4. This photograph shows the dentitionin occlusion 3 years after treatment and withthe extraction of the first molars, the dis-placed left premolar, and canine have eruptedinto a reasonable alignment.

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