Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance.
Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case report describes the oral and dentofacial findings of Rubinstein-Taybi syndrome affecting a 13-year-old Indian female, including the uncommon presence of talon cusps and an unerupted supernumerary tooth.
RubinsteinJH.Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957–1988. Am J Med Genet Suppl.1990;6:3–16.
2.
HamoshA, ScottAF, AmbergerJ, BocchiniC, ValleD, McKusickVA.Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res.2002;30:52–5.
3.
SpitzJL.Genodermatoses: A Full-Color Clinical Guide to Genetic Skin Disorders. New York: Williams & Wilkins; 1996. p. 308–9.
4.
BartschO, SchmidtS, RichterM, MorlotS, SeemanovaE, WiebeG, . DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet.2005;117:485–93.
5.
RoelfsemaJH, WhiteSJ, AriyurekY, BartholdiD, NiedristD, PapadiaF, . Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet.2005;76:572–80.
6.
FoleyP, BunyanD, StrattonJ, DillonM, LynchSA.Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. Am J Med Genet A.2009;149:997–1000.
7.
PetrijF, DauwerseHG, BloughRI, GilesRH, van der SmagtJJ, WallersteinR, . Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet.2000;37:168–76.
8.
DavidovichE, EimerlD, PeretzB.Dental treatment of a child with Rubinstein-Taybi syndrome. Pediatr Dent.2005;27:385–8.
9.
Morales-ChavezMC.Dental management of a patient with Rubinstein-Taybi syndrome. Spec Care Dentist.2010;30:124–6.
10.
Bloch-ZupanA, StachtouJ, EmmanouilD, ArveilerB, GriffithsD, LacombeD.Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. Am J Med Genet A.2007;143:570–3.
WieczorekD, BartschO, LechnoS, KohlhaseJ, PetersDJ, DauwerseH, . Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. Am J Med Genet A.2009;149:2849–54.