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 language | English (US) |
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Article number | 116577 |
Journal | Bone |
Volume | 165 |
DOIs | |
State | Published - Dec 2022 |
Bibliographical note
Publisher Copyright:© 2022 Elsevier Inc.
Keywords
- Autosomal recessive
- Malignant osteopetrosis
- Osteoclast poor
- Osteoclast rich
- Osteopetrosis
- Phenotype