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

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

GENETIC COUNSELING, cilt.14, sa.4, ss.387-393, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 4
  • Basım Tarihi: 2003
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.387-393
  • Anahtar Kelimeler: Pyle metaphyscal dysplasia, platyspondyly, metaphyseal dysplasia, DISEASE
  • Gazi Üniversitesi Adresli: Hayır

Özet

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.