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Pediatrics Education and Research

Volume  5, Issue 2, May-Aug 2017, Pages 105-107

 

Original Article

Spondyloepiphyseal Dysplasia: A Rare Entity
Ramesh Lomte*, Santosh Kondekar**, Surbhi Rathi***
*Resident (Third Year) **Associate Professor ***Professor, Department of Pediatrics, TN Medical College and BYL Nair Hospital, Mumbai Central, Mumbai 400008, India.
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DOI: https://dx.doi.org/10.21088/per.2321.1644.5217.20

Abstract

Spondyloepiphyseal dysplasia congenita is an autosomal dominant inherentdisorder characterized with abnormal growth of epiphyseal center,spine and disproportionate dwarfism. Here we report a child presents with short stature evaluated for short stature and abnormal gait turned out as skeletal dysplasia.

Keywords: Spondyloepiphyseal Dysplasia; Skeletal dysplasia. 


Corresponding Author : Ramesh Lomte, Resident (Third Year), Department of Pediatrics, 1st Floor, College Building, TN Medical College and BYL Nair Charitable Hospital, Dr. AL Nair Road, Mumbai Central, Mumbai400008, India.