Spondyloepiphyseal Dysplasia Congenita
Journal Title: PARIPEX-Indian Journal of Research - Year 2015, Vol 4, Issue 11
Abstract
Spondyloepiphyseal dysplasia (SED) is a rare, type II collagen disorder characterised by short trunk disproportionate dwarfism with primary involvement of the spine and epiphysis of long bones. Two major forms of this disorder are known: SED Congenita and SED tarda.We present a case of SED Congenita having additional rare features viz. microcephaly and motor developmental delay detectable at the age of 5 years.
Authors and Affiliations
DR DILEEP KUMAR GOYAL, DR AMRITA MAYANGER, DR A. L. BAIRWA
Keywords
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