An Extremely Rare, Atypical and Genetically-Undetermined Form of Osteopetrosis

Cecilia Tetta, Marco Focaccia, Lea Bono, Eugenio Rimondi, Paolo Spinnato

Research output: Contribution to journalArticlepeer-review

Abstract

Osteopetrosis is an uncommon skeletal disorder characterized by generalized sclerosis of bones due to defective osteoclast function. A wide variation in clinical severity of the disease has been observed. Radiographic features and genetic testing are usually used to diagnose the condition. In the present study, we present a case of an extremely rare, atypical and genetically-undetermined form of Osteopetrosis. This patient had some clinical and radiological features of craniometaphyseal dysplasia along with atypical radiological signs of osteopetrosis.

Original languageEnglish
Pages (from-to)1036-1039
Number of pages4
JournalCurrent Hypertension Reviews
Volume17
Issue number8
Early online dateJan 28 2021
DOIs
Publication statusPublished - 2021

Keywords

  • Craniometaphyseal dysplasia
  • Diagnostic imaging
  • Metabolic bone disease
  • Osteopetrosis
  • Sclerosis; X-rays

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