SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA: REPORT OF A CASE AND REVIEW OF THE LITERATURE

Saeed Bin Ayaz, Samia Rauf, Fawad Rahman

Abstract


Spondyloepiphyseal dysplasia congenita (SEDC) is a disorder of type II collagen synthesis that primarily affects the spine and proximal epiphyseal centers. The abnormalities are present at birth and may include short stature, flattened facies, kyphoscoliosis, lumbar hyperlordosis, coxa vara and genu valgum. The defects may complicate into gait abnormality, early degenerative changes, joint fusion, osteopenia and neurological compromise. Early diagnosis of SEDC may prevent unnecessary diagnostic testing for other causes of short stature and/or osteoarthritis and guide towards timely protective measures. We report here, a 4-years-old child, who presented with SEDC and was treated with analgesics and counselling of parents for prognosis, precautions, potential complications, treatment options for the future and inheritance of the disease.


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