Pyle metaphyseal dysplasia

Abstract

Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that primarily affects metaphyses. We report a 12 year old boy with Pyles disease. He had mild facial dysmorphism, genu valgum and wasting of legs. Skeletal radiology revealed the characteristic Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses along with platyspondyly.