Indan Journal of Medical Research Indan Journal of Medical Research Indan Journal of Medical Research
  Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login  
  Home Print this page Email this page Small font sizeDefault font sizeIncrease font size Users Online: 3202       

   Table of Contents      
CLINICAL IMAGE
Year : 2020  |  Volume : 152  |  Issue : 7  |  Page : 236-237

Rubinstein–Taybi syndrome


Department of General Medicine, Father Muller Medical College, Mangalore 575 002, Karnataka, India

Date of Submission20-Nov-2019
Date of Web Publication25-May-2021

Correspondence Address:
Peter George
Department of General Medicine, Father Muller Medical College, Mangalore 575 002, Karnataka
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijmr.IJMR_2399_19

Rights and Permissions

How to cite this article:
Ravella R, George P. Rubinstein–Taybi syndrome. Indian J Med Res 2020;152, Suppl S1:236-7

How to cite this URL:
Ravella R, George P. Rubinstein–Taybi syndrome. Indian J Med Res [serial online] 2020 [cited 2021 Aug 4];152, Suppl S1:236-7. Available from: https://www.ijmr.org.in/text.asp?2020/152/7/236/316849

Patient's consent obtained to publish clinical information and images.


A 26 yr old male presented to the Medicine outpatient department, Father Muller Medical College and Hospital, Mangaluru, in September 2018. A third child, born to non-consanguineous parents with 'Rubinstein–Taybi syndrome' or 'broad thumb-hallux syndrome', he presented with complaints of fever and headache but his vitals were stable. He had mental retardation (IQ <70), divergent squint and prominent beaked nose [Figure 1], crowded teeth, talon cusps of incisors [Figure 2], high-arched palate, broad thumbs, broad great toes, platonychia, clinodactyly, polydactyly [Figure 3] and kyphosis, all features suggestive of Rubinstein–Taybi syndrome. He had neutrophilic leucocytosis and thrombocytosis with a hypoplastic bone marrow. Investigations done to rule out haematological malignancies, cardiac structural/conduction defects, neuro-malignancies and skin disorders were unyielding. Blood and urine culture were negative. The patient was started on empirical treatment with intravenous antibiotics for seven days and his fever subsided. This case is reported to emphasize the importance of identifying rare syndromes, especially the inherited ones, to facilitate genetic counselling in such families.
Figure 1: Divergent squint refers to an eye that turns or diverges outwards.

Click here to view
Figure 2: Talon cusp is an extra cusp on an anterior tooth (arrow).

Click here to view
Figure 3: Polydactyly, an extra toe on the right foot.

Click here to view


Conflicts of Interest: None.


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

Top
 
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
    Article Figures

 Article Access Statistics
    Viewed134    
    Printed0    
    Emailed0    
    PDF Downloaded30    
    Comments [Add]    

Recommend this journal