Poly-epiphyseal overgrowth: Description of a previously unreported skeletal dysplasia

Ugo E. Pazzaglia, Giampiero Beluffi, Antonietta Marchi, Mauro Bozzola, Salvatore Savasta, Giovanni Bonaspetti

Research output: Contribution to journalArticlepeer-review

Abstract

A skeletal dysplasia with previously unreported features is presented. Its evolution was characterized by growth abnormalities of bones without involvement of other organs. Advanced bone age, increased stature and irregular epiphyseal ossification with stippling of the main long bones were documented. Physeal overgrowth was massive in the left proximal humerus and femur. Furthermore, the hip joint appeared fused with an abundant mass of pathological calcific tissue extending from the femur to the ilium. Pathological epiphyses were characterized by anarchic cartilaginous proliferation with multiple ossification centres, while lamellar bone apposition and remodelling were normal. The observed bone changes were different from those in any previously reported syndrome, metabolic defect or bone dysplasia. However, they clearly indicated a defect of endochondral ossification with some resemblance to phenotypes observed in dysplasia epiphysealis hemimelica.

Original languageEnglish
Pages (from-to)1025-1030
Number of pages6
JournalPediatric Radiology
Volume37
Issue number10
DOIs
Publication statusPublished - Oct 2007

Keywords

  • Epiphyseal growth
  • Growth abnormalities
  • Physeal overgrowth
  • Skeletal dysplasia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

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