8 Scopus citations

Abstract

Osteopetrosis (OPT) is a life-threatening disease characterized by increased bone mass caused by diminished osteoclast function/differentiation. The autosomal recessive forms, caused by biallelic variants in implicated genes, usually present in infancy. Without treatment, autosomal recessive OPTs are usually fatal within the first 10 years of life [1]. Here, we review the clinical features and associated pathophysiology of the autosomal recessive OPT. A greater understanding of these rare disorders will advance early diagnosis and optimal management.

Original languageEnglish (US)
Article number116577
JournalBone
Volume165
DOIs
StatePublished - Dec 2022

Bibliographical note

Publisher Copyright:
© 2022 Elsevier Inc.

Keywords

  • Autosomal recessive
  • Malignant osteopetrosis
  • Osteoclast poor
  • Osteoclast rich
  • Osteopetrosis
  • Phenotype

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