A case with Pyle type Metaphyseal Dysplasia: Clinical, radiological and histological evaluation

Percin E., Percin S., Koptagel E., Demirel H.

GENETIC COUNSELING, vol.14, no.4, pp.387-393, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 4
  • Publication Date: 2003
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.387-393
  • Keywords: Pyle metaphyscal dysplasia, platyspondyly, metaphyseal dysplasia, DISEASE
  • Gazi University Affiliated: No


A case with Pyle type Metaphyseal Dysplasia: clinical, radiological and histological evaluation: Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that is primarily affect metaphyses. Here we present a case with Pyle type metaphyseal dysplasia. The characteristic features of the case were metapyhseal broadening with undertubulation and Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses. There were also platyspondyly with biconcave lens appearance of the vertebral bodies, congenital hip dislocation and normal cranium. Bone histopathology showed decreased number of osteoclasts. To the best of our knowledge, this is the first reported case of Pyle type metaphyseal dysplasia from Turkey.