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Indian Journal of Genetics and Molecular Research

Volume  2, Issue 2, July - December 2013, Pages 59-63
 

Case Report

Achondroplasia

Sunil Mhaske, Kadam Vishnu, Tarde Shyam, Sandeep Deokate, Nishad Patil, Rahul Maski

*Professor & Head,**Professor,***Associate Professor,****Resident, Dept of Paediatrics; Padmashree Dr. Vithalrao Vikhe Patil Medical College & Hospital, Near Govt. Milk Dairy, Vilad Ghat, Ahmednagar – 414111.

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Abstract

 Achondroplasia is a very rare condition where a child is diagnosed with dwarfism. It is the most common type of dwarfism. It is caused by an autosomal dominant gene. “Little People”, as they refer to themselves, are not mentally retarded, nor do they have any other mental disabilities due to the disorder. 

Keywords: Achondroplasia; Autosomal dominant gene; Short stature.


Corresponding Author : Sunil Mhaske