Kumar, Saravana

M.D, Shashikiran

N.B, Nagaveni

P, Poornima

International Journal of Contemporary Dental and Medical Reviews

1International Journal of Contemporary Dental and Medical Reviews (2015), Article ID 190115, 2 PagesBroad thumb-hallux syndrome (OMIM 180849) is also known as Rubinstein Taybi syndrome. It is a congenital disorder of the rare entity with clinical features showing postnatal growth defi ciency, broad thumbs and great toes, mental retardation (intellectual disability) and craniofacial dysmorphism. The etiology for its occurrence may be sporadic or autosomal dominant inheritance. Literature search exhibits very few cases of broad thumb-hallux syndrome cases. Therefore, herewith we aim to present such a rare disorder.A 12-year-old male patient visited our department for poor oral hygiene. Patient was born to parents with consanguineous marriage. On detailed physical examination, patient exhibited broad and medially deviated right and left thumbs [Figure 1], broad great toes with clinodactyly of left fifth toe [Figure 2]. Patient also showed beaked nose with the columella protruding well below the alae nasi, bushy eyebrows, hypertelorism, folded epicanthal folds [Figure 3]. Patient was mentally retarded but did not show any other systemic problems. On intra-oral examination, high arched palate with cleft, agenesis of some permanent teeth and crowding were evident.Figure 1: Broad and medially deviated thumbsFigure 2: Patient showing broad great toesFigure 3: Patient with other features: Hypertelorism, bushy eyebrows, folded epicanthal folds and beaked nose with the columella protruding well below the alae nasiL E T T E R  T O  T H E  E D I T O RBroad thumb-hallux syndrome: A rare congenital disorderN. B. Nagaveni1, Saravana Kumar2, N.D. Shashikiran3, P. Poornima41Department of Pedodontics and Preventive Dentistry, College of Dental Sciences, Davangere, Karnataka, India, 2Department of Pedodontics, Ragas Dental College, Chennai, Tamil Nadu, India, 3Department of Pedodontics, People’s College of Dental Sciences, Bhopal, Madhya Pradesh, India, 4Department of Pedodontics, College of Dental Sciences, Davangere, Karnataka, India. E-mail: nagavenianurag@gmail.comReceived 17 January 2015; Accepted 20 February 2015doi: 10.15713/ins.ijcdmr.38How to cite the article: N. B. Nagaveni, Saravana Kumar, N. D. Shashikiran, P. Poornima, “Broad thumb-hallux syndrome: A rare congenital disorder,” Int J Contemp Dent Med Rev, vol. 2015, Article ID: 190115, 2015, doi: 10.15713/ins.ijcdmr.38Letter to the Editor Nagaveni, et al.2Rubinstein-taybi syndrome (RTS) was fi rst described in 1957, but well-delineated by Dr. Jack Rubinstein and Dr. Hooshang Taybi, in 1963.[1] The prevalence in the general population is approximately 1 case in 3,00,000 persons and is as high as 1 case per 10,000 live births.[2] It occurs with equal frequency in males and females and with no racial predilection.[1,2] All RTS patients exhibit degrees of language, mental, motor and social retardation with the most usual intelligence quotient being in 30-79 range.[3] The locus of RTS is located on band 16p13.3, which includes a gene encoding binding protein for cyclic adenosine monophosphate-response element binding protein (CREBBP or CBP gene) that is responsible for the phenotype of RTS.[1,3]Clinically, this syndrome is characterized by decreased growth, mental retardation, broad mediated deviated thumbs with big toes. Patients also exhibits some craniofacial abnormalities like downward slanted palpebral fi ssures, microcephaly, posterior rotated ears, hypertelorism, long eyelashes, downward slanted palpebral fi ssures, pouting upper lip and beaked nose with the columella protruding below alae nase.[1,2,4] Other clinical features  include cryptorchidism, (incomplete or delayed descent of the testes in males) congenital heart problems, gastrointestinal tract abnormalities, recurrent respiratory tract infections.[2,4]In the neonate, this syndrome can be confused with the De-lange syndrome, trisomy 13, Apert syndrome and Pfeiﬀ er syndrome. Therefore, it is best to consider individuals without all the classic features of RTS as having an “incomplete form” rather than an incorrect diagnosis.[5]Regarding treatment, there is no defi nitive therapy for RTS.[1,2] The wide spectrum of clinical manifestations requires disease management tailored to the problems of each patient.[3] Physical therapy, speech and feeding therapy and, special education are important supportive measures in infancy.[3] Individualized surgical treatment based on fi ndings in the patient, for example, a patient with a congenital heart defect may need cardiothoracic intervention. Hand and/or foot surgery frequently improves grasp, oppositional function, and comfort.[5] The survival rate is good, with frequent reports of adult patients with RTS. Respiratory infections and complications from congenital heart disease are primary causes of morbidity and mortality in infancy.References1. van Genderen MM, Kinds GF, Riemslag FC, Hennekam RC. Ocular features in Rubinstein-Taybi syndrome: Investigation of 24  patients and review of the literature. Br J Ophthalmol 2000;84:1177-84.2. Jones KL. Smith’s Recognizable Patterns of Human Malformation. 5th  ed. Philadelphia: W.B. Saunders Company; 1997. p. 92-5.3. Mohd Fadley MA, Ismail A, Keong TM, Yusoff  NM, Zakaria Z. Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: A case report. J Med Case Rep 2012;6:30.4. Gunashekhar M, Hameed MS, Bokhari SK. Oral and dental manifestations in Rubinstein-Taybi syndrome: Report of a rare case. Prim Dent Care 2012;19:35-8.5. Tatara Y, Kawakami N, Tsuji T, Miyasaka K, Ohara T, Nohara  A. Rubinstein-Taybi syndrome with scoliosis. Scoliosis 2011;6:21.

Broad thumb-hallux syndrome: A rare congenital disorder

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Broad thumb-hallux syndrome: A rare congenital disorder

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International Journal of Contemporary Dental and Medical Reviews