Lumbar gibbus: early presentation of dysostosis multiplex

Abstract

A 5-month-old infant who presented with wheeze was incidentally found to have a gibbus over lumbar region (L1–L3). The developmental milestones were appropriate and no dysmorphic features were noted. The spinal radiograph showed “beaking” of the vertebral bodies in L1–L2 (fig 1A). Urine for glycosaminoglycans was positive. The urine mucopolysaccharide electrophoresis and lysosomal enzyme estimation confirmed the diagnosis of mucopolysaccharide …