SPONDYLOEPIPHESEAL DYSPLASIA TARDA: A CASE  REPORT

Raisa Altaf Malik

SPONDYLOEPIPHESEAL DYSPLASIA TARDA: A CASE REPORT

Raisa Altaf Malik

Abstract

ABSTRACT:Skeletal disorders are common entities that we encounter in our daily practice. Their earlydiagnosis is key to proper management and genetic counselling. Spondyloepiphyseal dysplasiais one such disorder. It is a genetic bone deformity that affects the spine, proximal epiphysisand pelvis. The disease is either manifested at birth or during adolescence therefore given theterms SED congenita or SED tarda. Patients with SED present with variable features includingshort height, short neck, club foot, cleft palate, kyphoscoliosis or lordotic abnormalities. Wealso present a case of an 11-year-old boy who presented to us with complaints of stunted growthand abnormal posture and underwent radiological imaging.

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