ReviewBone2023
Autosomal dominant osteopetrosis.
Review in Bone, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Bilateral distal femoral sclerotic lesions in elderly women: a distinct benign imaging pattern associated with fat necrosis and dystrophic calcification.European radiology · 2026Article
- Unique presentation of immune thrombocytopenic purpura in adult osteopetrosis: A case report.Radiology case reports · 2026Article
- HR-pQCT measures of bone in autosomal dominant osteopetrosis highly correlate with fractures and inversely correlate with bone resorption markers.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Current advances of bone homeostasis imbalance in the cause of hereditary metabolic bone diseases.EFORT open reviews · 2026Review
- The orthopaedic management of osteopetrosis in paediatric populations: a narrative review of the literature.Frontiers in pediatrics · 2026Review
- Diffuse Osteosclerosis in a Young Cat Presenting With Chronic Nasal Congestion: A Case Report.Veterinary medicine and science · 2025Article
- Multiple revision surgeries after total hip arthroplasty in a patient with osteopetrosis: a case report with 24 years of follow-up.BMC musculoskeletal disorders · 2025Article
- Article
- Paradoxical combination of osteosclerosis and osteopenia in an adult woman with biallelicJBMR plus · 2025Article
- A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family.BMC medical genomics · 2025Article
- Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Autosomal Dominant Osteopetrosis - Identification of a New Mutation.European journal of case reports in internal medicine · 2025Article
- Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review).Molecular medicine reports · 2024Review
- Osteopetrosis in the pediatric patient: what the radiologist needs to know.Pediatric radiology · 2024Review
- Bone Material Properties in Bone Diseases Affecting Children.Current osteoporosis reports · 2023Review
- Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report.BMC oral health · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a "bone-in-bone" appearance of long bones and sclerosis of the superior and inferior vertebral body endplates. Generalized osteosclerosis in ADO typically results from abnormalities in osteoclast function, due most commonly to mutations in the chloride channel 7 (CLCN7) gene. A variety of debilitating complications can occur over time due to bone fragility, impingement of cranial nerves, encroachment of osteopetrotic bone in the marrow space, and poor bone vascularity. There is a wide spectrum of disease phenotype, even within the same family. Currently, there is no disease specific treatment for ADO, so clinical care focuses on monitoring for disease complications and symptomatic treatment. This review describes the history of ADO, the wide disease phenotype, and potential new therapies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.