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Spondyloepiphyseal Dysplasia: A Rare Entity

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. , Ramesh Lomte* , Santosh Kondekar** , Surbhi Rathi***

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Pediatric Education and Research 5(2):p 105-107, May-Aug 2017. | DOI: https://dx.doi.org/10.21088/per.2321.1644.5217.20

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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. 

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DOI: https://dx.doi.org/10.21088/per.2321.1644.5217.20

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