Case Report:

Rubinstein-Taybi Syndrome
Jayant Vagha*,Ashish Verma**, Abhishek Kalwani ***, Ramnath Reddy#, Anjali Kher**

* Professor, **Associate professor, ***Senior Resident, #Junior Resident Department of Pediatrics,

Jawaharlal Nehru Medical College and Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha.
Corresponding Author: Dr.Jayant Vagha ,Professor and Head of Department Department of Pediatrics,
Jawaharlal Nehru Medical College and Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha.
Mobile: 9890625338 Email: jayantvagha @gmail.com
Received: 23th August,2018; Reviewed: 24th October 2018, Accepted: 21st December 2018
Citation Of Article: Jayant Vagha, Ashish Verma, Abhishek Kalwani, Ramnath Reddy, Anjali Kher;
Rubinstein-Taybi Syndrome; New Indian Journal Of Pediatrics 7:4: p.245-248

Abstract: and malpositioned ears with dysplastic helices. In

Rubinstein-Taybi Syndrome is a rare genetic disorder with
addition, characteristic skeletal findings are broad
characteristic featuresincluding downward slanting palpebral short terminal phalanges of the thumbs and halluces,
fissures, broad thumbs and halluces,and mental retardation. and postnatal growth retardation with head
Systemic features may involve cardiac, auditory,ophthalmic, circumference below the fiftieth percentile.
endocrine, nervous, renal and respiratory systems. This Dermatologic features include capillary
syndromeis sporadic in nature and has been linked to malformation in approximately 50 percent of
microdeletion at 16p 13.3 encoding CREB-binding protein
gene (CREBBP). We report a 6-month-old male, who has
patients and higher incidence of keloid formation3
congenital talipus equino varus, with downward slanting and pilomatricomas 4.There may be systemic
palpebral fissures towardthe ears, hypertelorism, short stature, involvement of multiple organ systems. Of children
beaked nose, micrognathia, large toes and broad thumbs. with RSTS, 24-38 percent have cardiac
Keywords: Rubinstein-Taybi Syndrome (RSTS), Broad abnormalities including atrial and ventricularseptal
thumb and halluces, CTEV. defects, patent ductus arteriosus, coarctation of the
aorta, pulmonic stenosis,and bicuspid aortic valve
Introduction: abnormalities 5. Feeding difficulties and
Rubinstein- Taybi Syndrome (RSTS) was gastroesophageal reflux disease requires aggressive
initially reported by Michael et al. in1957 as the treatment in young children to prevent nutritional
broad thumb-hallux syndrome and then was and growth deficits. Cryptorchidism affects 78-100
described by Rubinstein and Taybi in 19631 in percent of the male infants6. There is an increased
children with broad thumbs and toes, facial incidence of benign and malignant tumors as well
abnormalities and short stature. Since then, there as leukemia and lymphoma3,7. Other organ systems
have been over 250 cases documented in the that may be involved include auditory, ophthalmic,
literature. It has been estimated that 1 per 300-500 endocrine, neurologic, respiratory 6 and renal
institutionalized persons with mental retardation systems.
over age 5 have this syndrome. Male and female Rubinsten-Taybi Syndrome is associated with a
individuals are affected at equal rates2.Typical facial mutation in the CREB-binding protein gene
features include downward slanting palpebral (CREBBP) located on chromosome 16p 13.3.
fissures toward the ears, hypertelorism, long CREBBP which is essential to normal development.
eyelashes, high arched eyebrows, prominent nose,

October-December 2018 Volume 7.4 245

It has been identified as a nuclear protein that in the same band 16p 13.3. However, this anomaly
participates as a coactivator in cyclic AMP regulated cannot be identified in all patients. Clinically, the
gene expression. The precise relationship between difference between patients with or without deletion
microdeletion in the CREBBP and the phenotype is minimal except for microcephaly. Band 16p 13.3
of Rubinstein-Taybi is yet to be elucidated8,9. seems to be an important locus for mental retardation
In this report, we introduce a case with features in patients with correct diagnosis of RSTS. 6,12,13,14
of rubinsten -taybi syndrome with CTEV. Our patient, a known case of CTEV, was
identified with characteristic features of the RSTS
Case Report:
as explained above. In conclusion, RSTS is a rare
A 6-month-old male child presented with CTEV genetic condition that affects body shape,
patient came for further management. On extremities, and many organs/systems of the body,
examination patient had a distinctive facial particularly cardiac, respiratory, nervous, and uro-
appearance with hypertelorism, a broad nasal bridge, genital system. This case report can help
a beaked nose, micrognathia, microcephaly, smile pediatricians to become more familiar with this
grimacing, a narrow and high arched palate and long syndrome.
eye lashes. On examination, short stature, broad
thumbs, large toes, and CTEV.
Motor and language developmental delay was
noted.
Echo and USG abdomen were done which were
normal. Blood investigation done which were within
normal limits.
Discussion:
Rubinstein-Taybi Syndrome is a rare congenital
anomaly. It appears that there is very little
documented evidence regarding this syndrome in
pediatric literature9. The cause of RSTS is still
unclear, but it is associated with a microdeletion at
16p 13.3 region in the CREB binding protein gene
(CREBBP) in some patient, suggesting that deletion
is the most probable cause of the syndrome 10.
CREBBP is a transcription coactivator and functions
as a potent histone acetyltransferase, both of which
are essential to normal development8. In animal
models, the mice with truncated Crb
proteindemonstrate clinical features of RSTS
observed in humans including growth retardation,
retarded osseous maturation, hypoplastic maxilla
with a narrow palate, and cardiac and skeletal
abnormalities11. More recently, the breakpoint of
two distinct reciprocal translocations occurring in
patients with the diagnosis of RSTS has been located

246 Volume 7.4 October-December 2018

 3. Siraganian PA, Rubinstein JH, Miller RW.
Keloids and neoplasms in the Rubinstein-Taybi
syndrome. Med Pediatr Oncol 1989; 17: 485.
4. Dalal AB, Phadke SR. Morphometric analysis
of face in dysmorphology. Comput Methods
Programs Biomed 2007 Feb;85(2):165-72.
5. Stevens C, Bhakta M. Cardiac abnormalities
in the Rubinstein-Taybi syndrome. Am J Med
Genet 1995; 59:346.
6. Wiley S, Swayne S, Rubinstein JH, Lanphear
NE, Stevens CA. Rubinstein-Taybi syndrome
medical guidelines. Am J Med Genet 2003;
119A:101.
7. Miller R, Rubinstein JH. Tumors in Rubinstein-
Taybi syndrome. Am J Med Genet 1995; 56:
112.
8. Roelfsema JH, White SJ, Ariyurek Y, Bartholdi
D, Niedrist D, Papadia F, et al. Genetic
heterogeneity in Rubinstein-Taybi syndrome:
mutations in both the CBP and EP300 genes
cause disease. Am J Hum Genet 2005; 76:572-
580.
9. Taren Cardona BS, Al Kline DPM. Rubinstein-
Taybi Syndrome: A case report. The Foot &
Ankle Journal 2008;1(7):3.
Author’s contribution: Jayant Vagha-guidance, 10. Petrij F, Giles RH, Dauwerse HG, Saris JJ,
concept, Ashish Verma- data collection, Abhishek Hennekam RCM, Masuno M, et al. Rubinstein-
Kalwani-literature search, Ramnath Reddy- Taybi syndrome caused by mutations in the
manuscript, Anjali Kher concept,strategy, transcriptional coactivator CBP. Nature 1995;
376: 348-351; PubMed ID: 7630403.
Conflict of interest: Nil
11. Oike Y, Hata A, Mamiya T, Kaname T, Noda
Funding source and its role in the study: No Y, Suzuki M, et al. Truncated CBP protein leads
References: to classical Rubinstein-Taybi syndrome
phenotypes in mice: implications for a
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12. Stef M, Simon D, Mardirossian B, Delrue MA,
2. Spitz JL. Genodermatosis: a full-color clinical Burgelin I, Hubert C, et al. Spectrum of
guide to genetic skin disorders. Lippincott, CREBBP gene dosage anomalies in
New York: Williams & Wilkins; 1996. Rubinstein-Taybi syndrome patients. Eur J
P.308-9. Hum Genet 2007; Aug; 15(8):843-7.

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13. Petrij F, Dauwerse H, Blough R,Giles R, J van 14. Masuno M, Imaizumi K, Ishii T, Kuroki Y,
der Smagt J, Wallerstein R. Diagnostic analysis Baba N, Tanaka Y. Pilomatrixomas in
of theRubinstein-Taybi syndrome: five cosmids Rubinstein-Taybi syndrome. Am J Med Genet
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