Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group

CC Wu, MJ Econs, LA DiMeglio… - The Journal of …, 2017 - academic.oup.com
Background Osteopetrosis encompasses a group of rare metabolic bone diseases
characterized by impaired osteoclast activity or development, resulting in high bone mineral …

Osteopetrosis

Z Stark, R Savarirayan - Orphanet journal of rare diseases, 2009 - Springer
Abstract Osteopetrosis (" marble bone disease") is a descriptive term that refers to a group of
rare, heritable disorders of the skeleton characterized by increased bone density on …

Hematopoietic stem cell transplantation for infantile osteopetrosis

PJ Orchard, AL Fasth, J Le Rademacher… - Blood, The Journal …, 2015 - ashpublications.org
We report the international experience in outcomes after related and unrelated
hematopoietic transplantation for infantile osteopetrosis in 193 patients. Thirty-four percent …

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

EL Stattin, P Henning, J Klar, E McDermott… - Scientific Reports, 2017 - nature.com
Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by
defective osteoclastic resorption of bone that results in increased bone density. We have …

Phenotype-autosomal recessive osteopetrosis

NR Pillai, A Aggarwal, P Orchard - Bone, 2022 - Elsevier
Osteopetrosis (OPT) is a life-threatening disease characterized by increased bone mass
caused by diminished osteoclast function/differentiation. The autosomal recessive forms …

[HTML][HTML] Malignant infantile osteopetrosis: a case report

DK Bubshait, ZE Himdy, O Fadaaq, HI Alshmas - Cureus, 2020 - ncbi.nlm.nih.gov
Osteopetrosis is a rare genetic disease of bone resorption. It includes a variety of hereditary
skeletal disorders that have the main radiographic feature of increased bone density and …

[HTML][HTML] Malignant infantile osteopetrosis: case report with review of literature

L Essabar, T Meskini, S Ettair, N Erreimi… - The Pan African …, 2014 - ncbi.nlm.nih.gov
Abstract Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast
abnormal activity. We report a thirteen month-old male patient, diagnosed as MIOP while …

Osteopetrosis with Chiari I malformation: presentation and surgical management: case report

BJ Dlouhy, AH Menezes - Journal of Neurosurgery: Pediatrics, 2011 - thejns.org
Osteopetrosis is a heterogeneous group of rare, inherited disorders of the skeleton that
results in neurological manifestations due to restriction of growth of cranial foramina and …

Extending the spectrum of radiological findings in patients with severe osteopetrosis and different genetic backgrounds

N Simanovsky, K Rozovsky, N Hiller… - Pediatric Blood & …, 2016 - Wiley Online Library
Purpose To evaluate radiological findings in a cohort of 22 patients with infantile malignant
osteopetrosis in order to establish the correlation between radiological findings and different …

Osteopetrosis in the pediatric patient: what the radiologist needs to know

MN McLuckey, EA Imel, MM Forbes-Amrhein - Pediatric Radiology, 2024 - Springer
Osteopetrosis describes several types of rare sclerosing bone dysplasias of varying clinical
and radiographic severity. The classic autosomal dominant subtype emerges most often in …