Home | About us | Editorial board | Search | Ahead of print | Current issue | Archives | Submit article | Instructions | Subscribe | Contacts | Advertise | Login 
 
Search Article 
  
Advanced search 
  Users Online: 880 Home Print this page Email this page Small font sizeDefault font sizeIncrease font size  
CASE REPORT
Year : 2012  |  Volume : 16  |  Issue : 3  |  Page : 453-456

Short stature with umbilical hernia - Not always due to cretinism: A report of two cases


Department of Endocrinology, Gauhati Medical College, Guwahati, Assam, India

Correspondence Address:
Sharvil S Gadve
Department of Endocrinology, Gauhati Medical College, Guwahati, Assam
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2230-8210.95712

Rights and Permissions

A 7-year-old boy presented with umbilical hernia and short stature. Growth retardation, recurrent upper respiratory tract infections and delayed developmental milestones were present from infancy. Umbilical hernia was diagnosed at the age of 5 years. On examination, he had short-trunk dwarfism, large head circumference, coarse facial features, joint stiffness, hepatosplenomegaly, and mild mental retardation. He had normal biochemical parameters, thyroid function tests and arterial blood gas analysis. Radiological evaluation showed that the child had Hunter syndrome with findings of J-shaped sellaturcica, proximal bulleting of metacarpals, spatulated ribs and anterior beaking of lumbar vertebrae. The second case was a 6-year-old girl with umbilical hernia, short stature, normal biochemistry and radiological findings of mucopolysaccharidosis. However, she also had corneal opacity; confirmed by slit-lamp examination, which led to the diagnosis of Hurler-Scheie syndrome. Enzymatic studies could not be done in both the cases, as they are not available at most centers.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed3745    
    Printed51    
    Emailed2    
    PDF Downloaded379    
    Comments [Add]    
    Cited by others 1    

Recommend this journal