21582809

8/10/2019 21582809

http://slidepdf.com/reader/full/21582809 1/5

Rubinstein Taybi syndrome

STALIN A.a, VARMA B.b, JAYANTHIc

Abstract

Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by fa

dysmorphism, growth retardation and mental deficiency. A ten-year-old boy who had come to the Department of PedodonRagas Dental College, Chennai, with the chief complaint of unaesthetic appearance with extra teeth revealed delay indevelopmental milestones. The patient appeared to be hyperactive and mentally retarded. Extra oral features reveadistinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge and beaked nose. Intra oral featuobserved were talons cusps in the upper central and lateral incisors, mesiodens, carious teeth and plaque accumulatSince the patient was hyper active and mentally retarded, the dental treatment was done under GA. The treatment plan dental management of this patient are discussed in this case report.

Key words: Broad thumb and hallux, talon cusps, mesiodens, mental retardation

ISSN 0970 - 4

Introduction

Rubinstein Taybi syndrome or (RSTS) or Broad Thumb and

Hallux Syndrome is a genetic multisystem disorder character-

ized by facial dysmorphism, broad thumbs and halluces, growth

retardation and mental deficiency.[1,2] Though first described

by Michael in 1957 in the French literature, it was named after

Jack Herbert Rubinstein and Hooshang Taybi who identified

the constellations of a recognizable syndrome in 1963.

Prevalence in general population ranges from 1/3,00,000 to1/720,000 persons. Hennekam and others found it to be 1/

1,25,000 among the people of Netherlands.

Although the history of consanguinous marriage, familial re-

currence and apparent dominant transmission were described

in the pathophysiology of this syndrome, the overwhelming

majority of the reported cases are sporadic.

Regarding the genetic background of Rubinstein Taybi syn-

drome, the locus of Rubinstein Taybi syndrome is located on

band 16 p13.3 restricted to a region containing the gene fortranscription cofactor CRE binding protein (CBP-cyclic adenos-

ine monophosphate response element binding protein).

Microdeletions at 16p 13.3, point mutations in the CREB and

reciprocal translocation between chromosomes 7 & 16 and

chromosomes 2 & 16 were also found in RSTS patients (Petrij

et al 2000).[3]

Systemic problems involving respiratory systems, feeding and

weight gaining are noted during infancy. Polyhydromnios has

been reported in 30% of pregnancy in mothers of RSTS cases.

Systemic manifestations involving the skin, eye, ear, CVS, C

RS, Urinary tract sysyem, Skeletomuscular system are also c

mon among the RSTS cases.

Length, weight and head circumference at birth is betw

25th-50th percentiles. Mental deficiency is characteristic

there is severe delay in expressive speech. Average IQ repor

in these cases is 51. Electroencephalographic abnormalit

seizures, absence of corpus collosum and hyperactive d

tendon reflexes have been reported. Incomplete or dela

descent of the testes has been seen in males.[1]

Broad thumbs and great toes have been reported in mos

the cases. Broad terminal phalanges, persistent fetal p

clinodactyly of the 5th finger and overlapping of toes

common.

Craniofacial features include microcephaly, prominent f

head, down slanting palpebral fissures, epicanthal fold, s

bismus, broad nasal bridge, beaked nose with the nasal s

tum extending below alae, high arched palate and mild

crognathia. Grimacing or unusual smile, long eye lashes, nlacrimal duct obstruction, ptosis of eyelids, congenita

juvenile glaucoma, refractive error and rotation of ears

also common. Low frequency abnormalities included b

uvula, submucous patal cleft, bifid tongue, macroglos

short lingual frenum, neonatal teeth and thin upper lip.

ons cusp have been observed in over 90% of cases w

RSTS.[3,4]

Differential diagnosis can be a problem in the newborn.

casionally some cases have been confused with de La

syndrome, Saethre Chotzen syndrome or with TrisomyBroad thumbs may be observed in Apert syndrome

Pfeiffer syndrome and short thumbs and fingers are see

aPostgraduate Student, bProf. and Head of Dept., cAssociate Prof.,

Department of Pedodontics and Preventive Dentistry, Ragas Dental

8/10/2019 21582809


Case Report

A 10-year-old boy accompanied by parents reported to the

outpatient center of Ragas Dental College, Chennai, with a

complaint of unaesthetic appearance with extra tooth in the

upper anterior region. The prenatal and natal history of the

child was uneventful. The clinical history of the patient re-

vealed that the developmental milestones were delayed andthe child is aphasic since childhood. The patient was the first,

of 2 children of parent with no history of consanguinity. The

patient appeared mentally challenged and hyperactive [Fig-

ure 1]. He appeared to be of short stature for his age. He does

not go to school / but has no problem in socializing with

others.

The patient had a distinctive facial appearance with a broad

forehead, hypertelorism, broad nasal bridge, beaked nose,

thin upper lip and unusual grimace [Figure 2]. Preliminary

nvestigations ruled out any CNS or CVS involvement.

On examining hands, short fingers, broad thumbs and broad

terminal phalanges and clinodactyly of the 5th finger were

noted [Figure 3]. The toes of the feet were short with broad

great toes and clinodactyly of 3rd toe [Figure 4]. Radiographs

of hands revealed broad terminal phalanges and clinodactyly

of 5th finger [Figure 5]. Radiographs of feet showed broad

great toes and clinodactyly of 3rd toe [Figure 6]. Radiographs

of chest and pelvis did not show any abnormal findings.

ntraoral examination showed poor oral hygiene with plaque

and calculus deposits on facial surface of lower anterior teeth

and gingival inflammation in upper and lower anterior re-

gion. A high arch palate with marked anterior open bite and

bilateral posterior cross bite were noted [Figure 7]. In this

mixed dentition stage, the following permanent teeth have

erupted – the first molars, central and lateral incisor. The lower

1st premolar was seen erupting in both sides [Figure 9]. The

teeth present were: 16, 55, 54, 53, 12, 11, 21, 22, 63, 64, 65,

26, 36, 75, 34, 32, 31, 41, 42, 83, 44, 85 & 46.

A supernumerary tooth was seen adjacent to incisive papilla in

relation to 21. Talon cusps were present on maxillary centraland lateral incisors [Figure 8]. The talon cusp on the right max-

llary central incisor was bifid with a bigger left lobule and smaller

right lobule and extended from CEJ halfway to the incisal edge.

The talon cusp on left maxillary central incisor is attached to

the palatal surface 0.5 mm distal to the midline of the tooth. The

talon cusps on maxillary lateral incisors were prominent cusp

ike structures attached to palatal surface in the midline of the

tooth extending from CE junction halfway to the incisal edge.

n all the incisors with talon cusps, there were a deep develop-

mental groove where the cusp blends with the sloping lingual

tooth surface.

The lower right deciduouscanine tooth (83) showed pre-shed-


ding mobility. Dental caries was observed in the occlusal

face of mandibular right first permanent molar (36). It w

symptomless.

An intraoral radiograph showed a ‘W’ shaped radiopa

structure superimposed on the right maxillary central inc

[Figure 10]. It also showed a ‘V ’ shaped radiopaque struct

superimposed on the image of the maxillary left central isor with the point of ‘V’ toward the incisal edge. Both

talon cusps were outlined by two distinct white lines conv

ing from the cervical area of the tooth towards the inc

edge. None of the teeth with talon cusps showed pulpa

volvement of carious process / extension of pulp cham

into the talon cusp region. OPG or any other extraoral rad

graphs could not be taken, as the patient was hyperactiv

After the complete clinical examination and investigation,

following dental treatment plan was derived.

1. Oral prophylaxis and topical fluoride application.

2. Class-I cavity preparation and Composite resin rest

tion on tooth-36.

3. Reduction of talon cusps followed by preventive resin

torations on the grooves of teeth -11,12,21,22.

4. Extraction of mesiodens and 83.

5. Review and recall

Considering the mental retardation and hyperactive def

in this case, all the treatment was done under general an

thesia.

The patient recalled on the second day [Figures 11 and 12

the treatment procedure and oral hygiene instructions w

given to the patient as well as his parents. Parents were t

about the importance of dental health and review visits in

future.

Patient reported again after the period of 11 months. In

oral examination revealed intact restorations, no new cari

lesions and better gingival health and oral hygiene. The te

- 17, and 24, 27, 33, 43 were seen to be erupting [Figure

and 14]. In this visit, a general physician observed no ot

medical problems.

Discussion

Rubinstein Taybi syndrome is a rare multiple congen

anomaly syndrome with only 600 cases reported worldw

DG Fardner and SS Girgis (1986) have observed talon cusp

over 90% cases whereas Hennekam RCM and Van Dorne

after studying 45 cases of RSTS in Netherlands reported t

92% of them had talon cusps. Talon cusps are also presen

1% of normal population. Talon cusp is an unusual and r

morphologic anomaly.[1] Thoma reported the first case in 1and later by Mitchell in 1952. It is called so because it

sembles an eagle’s talon

8/10/2019 21582809


Figure 7: Frontal view ofdentition-preoperative

Figure 8: Occlusal view ofupper jaw-preoperative

Figure 9: Occlusal view ofupper jaw-preoperative

Figure 11: Occlusal view ofupper jaw-postoperative

Figure 12: Frontal viewLower jaw-postoperative

Figure 13: Frontal view ofdentition on review

Figure 14: Occlusal viewupper jaw on review

Figure 2: Facial featuresFigure 1: General features

Figure 3: Deformities of fingers

Figure 6: Radiological findingsof toes


Early diagnosis and management of talon cusp is important for the sake of preventing occlusal interference, compromised

esthetics, carious developmental grooves, periodontal prob-

ems due to excessive occlusal forces and irritation of the

tongue during speech and mastication.[5]

Treatment modalities for talon cusp include prophylactic

placement of sealants in the developmental groove,

recontouring, periodic reduction of the talon cusp followed

by topical fluoride application and endodontic treatment in

cases which result in pulp exposure. In this case, neither

caries involvement in pit and fissure areas nor occlusal inter-ference was noted. But the presence of talon cusps in all the

ncisors in the upper jaw seems to be unaesthetic and prone

Figure 4: Deformities of toes

Figure 5: Radiological findingsof fingers

treatment carried out was reduction of extra cus

recontouring the lingual surface of the incisors and

ventive resin restorations.

Most authors reported talon cusp to be composed of nor

enamel, dentin and pulp. Others have dismissed the prese

of the pulpal extension on the basis of histological and mi

scopic examinations. The radiographs in this report indica

the absence of pulp tissues in the talon cusps.[6]

Hennekam RCM and Van Dorne JM also suggested t

hypodontia, malformed teeth, natal teeth and hyperdo

can be manifested in this syndrome. This patient had a su

numerary tooth adjacent to incisive papilla in relation toThe rarity of the RSTS coupled with the fact that this c

presents with prominent talon cusp on all four incisors, b

talon cusp in upper right central incisor and presence

supernumerary tooth palatal to 21 makes this case an in

esting and unique one.

In most patients with such syndromes, the emphasis on c

required is on the primary disabling condition and so t

often receive inadequate dental care. This is particularly

fortunate, since oral health and function are essential to

overall health and well being of growing children, includthose with disabilities. The comprehensive care required

these patients is time consuming and many patients as we

Figure 10: IOPA in relatio11 and 21

8/10/2019 21582809


The dentist who extends his responsibility beyond the treat-

ment of the “Chief Complaint”, however, will find great re-

wards in helping the disabled patients and his family.

References

1. Gorlin RJ, Cohen MM, Hennekam RC. Proportionate short stature

syndrome: Syndromes of the head and neck. 4th

ed. OxfordUniversity Press: USA; 2001. p. 382-7.2. Shafer WG, Hine MK, Levy BM, Tomrich CE. Disturbances of

development and growth; Developmental disturbances of oraland Para oral structures. 4th ed. W B Saunders: India; 1993. p.41.


3. http//W.W.W.nlm.nih.gov/egi/Jablonski/syndrome egi? in565.

4. Rubinnstein Taybi Syndrome: RSTS-Pubmed ID-180849.5. Segura JJ, Jimenez-Rubio A. Talon cusp affecting perma

maxillary lateral incisors in 2 family members. Oral Surg Pathol Oral Radiol Endod 1999;88:90-2.

6. Nadkurni UM, Munshi A, Damle SG. Unusual presentatiotalon cusp: two case reports. Int J Pediatr Dentist 2002;12:5.

Reprint requests to:

Balagopal Varma R,

Prof. and Head of Dept.,

Mam Amritamai Dental College,

Cochin, Kerala

8/10/2019 21582809


21582809

Documents

Transcript of 21582809