IBEROAMERICAN JOURNAL OF MEDICINE 02 (2021) 169-172
Journal homepage: www.iberoamericanjm.tk
Rubinstein-Taybi syndrome: principal oral and dental disorders
and literature update
Alejandro Carlos de la Parte-Serna **\, Ricardo Ortega-Soria °“, Gonzalo Olivdn-
“Faculty of Health and Sports Sciences, University of Zaragoza, Huesca, Spain
> Pediatrics Emergency Service, HLA Hospital Montpellier, Zaragoza, Spain
“Social Services Institute of Aragon, Zaragoza, Spain
ARTICLE INFO ABSTRACT
Article history: Introduction: Oral and dental (OD) disorders in children with Rubinstein-Taybi
Received 5 January 2021 syndrome (RTS) are frequent but not well-known by dentists and pediatricians due
Received in revised form 19 January to the syndrome being extremely rare.
2021 Objective: To describe the OD findings observed in a 5-year-old girl with RTS and to
Accepted 22 January 2021 update the literature.
Clinical case: The patient presented the following OD manifestations: prominent
Keywords: lower lip, narrow mouth opening, narrow and arched palate, history of angular
Rubinstein-Taybi syndrome cheilitis, micrognathia, poor lingual motility, plaque and tartar, bleeding from
Odontostomatology disorders gingival areas due to poor dental prophylaxis, and malocclusion in the form of an
Pediatric dentistry anterior open bite. These OD manifestations are seen in more than 40-60% of
Disabled persons patients with RTS.
DetenninaGou of healthcare needs Conclusions: Professionals who treat children with RTS should become aware of
Special patients the advisability of referring them to the pediatric dentist from 1 year of age and
Talon cusps performing check-ups every 6 months. Dental management is often difficult so
collaboration with anesthesiologists is recommended in order to carry out a safe
and effective treatment.
© 2021 The Authors. Published by Iberoamerican Journal of Medicine. This is an open access
article under the CC BY license (http://creativecommons. org /licenses/by/4.0/).
HOW TO CITE THIS ARTICLE: de la Parte-Serna AC, Ortega-Soria R, Olivan-Gonzalvo G. Rubinstein-Taybi syndrome: principal
oral and dental disorders and literature update. Iberoam J Med. 2021;3(2):169-172. doi: 10.5281 /zenodo0.4483765.
fashion, originated from abnormalities in CREBBP (locus
1. INTRODUCTION cromosoma 16p13.3) or EP300 (locus cromosoma 22q13
.2) genes. RTS estimated prevalence varies from 1:100.000
Rubinstein-Taybi syndrome (RTS) is a genetic disorder, —_ to 1:300.000 births, with no observed differences related to
passed down through families in an autosomal dominant gender. RTS is clinically characterised by distinctive facial
* Corresponding author.
E-mail address: alejandro.delaparte @ gmail.com
ISSN: 2695-5075 / © 2021 The Authors. Published by Iberoamerican Journal of Medicine. This is an open access article under the CC BY license
170 IBEROAMERICAN JOURNAL OF MEDICINE 02 (2021) 169-172
features, broad and radially deviated thumbs and first toes,
short stature, microcephaly and moderate to severe
intellectual disability. Additional features include ocular
abnormalities, hearing loss, respiratory difficulties, heart
and kidney congenital defects, cryptorchidism, feeding
problems, infections, constipation,
odontostomatology disorders and a higher risk of
malignancies [1, 2].
Odontostomatology disorders in patients with RTS are
quite frequent but not so well-known by odontology and
paediatrics professionals due to the syndrome being
extremely rare. In 1990 Hennekam et al.  underwent the
largest case study and compared it with the existing
literature. In their work they observed in the jaws a high
frequency of two or more talon cusps in patients with RTS.
This finding, rarely appearing in the healthy population or
in relation to other syndromes, strongly helped in the field
of dysmorphology to link the presence of talon cups with
the diagnosis in suspected RTS patients.
In this work we describe the odontostomatologic findings
in a child patient with RTS and we update the existing
2. CLINICAL CASE
A 5-year-old child diagnosed with RTS after a genetic
study, visits the dental practice in Health Center Seminario
in Saragossa, Spain, for her first OD evaluation. The initial
OD exploration is quite limited due to the reticence of the
patient to be examined. Nevertheless, we observe first-
phase mixed dentition with deciduous teeth cohabiting with
the first permanent molar. We highlight the presence of
tartar in the lower incisors, both in the buccal/labial (Figure
1) and the lingual (Figure 2) regions. There is no presence
of cavities. We also observe macroglossia and lingual
interposition in the anterior area (Figure 3) that produced
anterior open bite. The patient’s mother refers to her habit
to stick out her tongue, especially during the night that we
link with the latter OD manifestation.
The patient is derived for therapy to the oral and dental unit
for patients with special needs in Hospital San Juan de
Dios in Saragossa, due to the special requirement to sedate
these patients for OD assistance in order to evaluate and
treat them appropriately. Eliminating the lingual
interposition habit is desirable, but given the special
circumstances of the patient, the use of some equipment
that prevents this habit should be considered. This could
help eliminating the presence of anterior open bite.
Similarly, dental prophylaxis is advisable to sanitize the
oral cavity and allow a more detailed inspection of the
dental pieces. Once sedated, a professional cleaning was
performed, removing all the tartar from the oral cavity. The
occlusion is kept under surveillance.
Figure 1: Tartar in the lower incisors in first-phase mixed
dentition with deciduous teeth cohabiting with the first
Figure 2: Tartar in the lower incisors in the buccal/labial
zone in first-phase mixed dentition with deciduous teeth
cohabiting with the first permanent molar.
RTS can be linked with a variety of oral and dental
disorders. In Table 1 we describe the OD manifestations,
more frequently described in recent literature for the last 15
years [4-14]. The patient of this clinical case exhibited the
IBEROAMERICAN JOURNAL OF MEDICINE 02 (2021) 169-172 171
Table 1. Oral and dental manifestations included in the Rubinstein-Taybi syndrome |
Oral manifestations Dental manifestations
Thin upper lip *
Prominent lower lip **
Narrow mouth opening **
Narrow and arched palate **
Cleft palate/upper lip
Poor lingual motility
Multiple cavities due to poor dental hygiene *
Plaque and tartar *
Periodontal disease due to poor oral hygiene and
immunological deficiencies *
Talon cusps in permanent upper incisors **
Dental crowding, malposition **
Hypomineralization of primary molar teeth
Hypomineralization of incisors and molars
Persistent primary teeth
Retained supernumerary teeth
* Present in more than 40% of the patients. ** Present in more than 60% of the patients.
following oral manifestations: prominent lower lip, narrow
mouth opening, narrow and arched palate, history of
Figure 3: Macroglossia and lingual interposition in the
angular cheilitis, micrognathia and poor lingual motility.
On the other hand, the dental manifestations included the
presence of plaque and tartar, bleeding from gingival areas
due to poor dental prophylaxis, and malocclusion in the
form of an anterior open bite. All of these OD findings are
observed in 40-60% of patients diagnosed with RTS.
Dental treatments for pathologies in children with RTS,
given the complexity and lack of cooperation due to their
age and mental disability often require a variety of sedation
techniques including in some cases, general anesthesia.
Previous reports show that, due to the anatomical
characteristics of the oral cavities of children with RTS and
their frequent gastroesophageal reflux, the process of
intubation can be difficult and present risks of aspiration in
the tracheobronchial tract .
All in all, pediatric patients with RTS frequently exhibit
certain OD disorders and so we consider essential to raise
awareness and educate professionals of the importance of
referring them to the pediatric dentist from 1 year of age
and performing check-ups every 6 months. Dental
treatment can often become difficult due to the need of
different sedation techniques. We recommend
collaboration with anesthesiologists in order to carry out a
safe and effective treatment.
172 IBEROAMERICAN JOURNAL OF MEDICINE 02 (2021) 169-172
I. Stevens CA. Rubinstein-Taybi Syndrome. 2002 Aug 30 [updated 2019 Aug
22]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G,
et al, editors. GeneReviews® [Internet]. Seattle (WA): University of
Washington, Seattle; 1993-2021.
2. Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B,
Badoe E, et al. Rubinstein-Taybi syndrome in diverse populations. Am J Med
Genet A. 2020; 182(12):2939-50. doi: 10.1002/ajmg.a.61888.
3. Hennekam RC, Van Doorne JM. Oral aspects of Rubinstein-Taybi syndrome.
Am J Med Genet Suppl. 1990;6:42-7. doi: 10.1002/ajmg. 1320370607.
4. Davidovich E, Eimerl D, Peretz B. Dental treatment of a child with
Rubinstein-Taybi syndrome. Pediatr Dent. 2005 ;27(5):385-S.
5. 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(4):292-6. doi: 10.1111/,.1365-263X.2006.00721.x.
6. Stalin A, Varma BR; Jayanthi. Rubinstein Taybi syndrome. J Indian Soc
Pedod Prev Dent. 2006;24 Suppl 1:S27-30.
7. Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe
D. Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.
Am J Med Genet A. 2007; 143A(6):570-3. doi: 10.1002/ajmg.a.31622.
&. Morales-Chavez MC. Dental management of a patient with Rubinstein-
Taybi syndrome. Spec Care Dentist. 2010;30(3):124-6. doi: 10.11 11/.1754-
9. Miinevveroglu AP, Akgol BB. Rubinstein-taybi syndrome: a case report.
Case Rep Dent. 2012;2012:483867. doi: 10.1155/2012/483867.
10. Gunashekhar M, Hameed MS, Bokhari SK. Oral and dental manifestations
in Rubinstein-Taybi syndrome: report of a rare case. Prim Dent Care.
2012;19(1):35-8. doi: 10.1308/135576112798990773.
11. Tirali RE, Sar C, Cehreli SB. Oro-facio-dental findings of rubinstein-taybi
syndrome as a useful diagnostic feature. J Clin Diagn Res. 2014;8(1):276-8.
12. Roberts TS, Chetty M, Stephen L, Urban M, Fieggen K, Beighton P.
Rubinstein-Taybi syndrome: Dental manifestations and management. S Afr J
Child Health. 2014;8:28-30.
13. Saberbein JAR, Medina RPPS, Pucumucha RCP, Samaniego UMG.
Rubinstein-Taybi syndrome, medical and dental care for special needs patients:
clinical case report. Rev Odont Mex. 2016;20:196-201. doi:
14. Cavalcanti Monteiro de Oliveira S, Campos Burigo R, Araujo de Lucena
Lira G, Bissoto Calvo AF, Kerber Tedesco T, Pettorossi Imparato JC.
Sindrome de Rubinstein-Taybi: Reporte de caso con 7 anos de seguimiento.
Rev Odontopediatr Latinoam. 2020; 10:102-10.
15, Altintas F, Cakmakkaya S. Anesthetic management of a child with
Rubinstein-Taybi syndrome. Paediatr Anaesth. 2004; 14(7):610-1. doi: