ArticleInternational journal of surgery case reports2023
Pyknodysostosis: A case report of an 8-year-old male with a rare genetic disorder.
Article in International journal of surgery case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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
4 citing papers in PubMed, 2 citations in OpenAlex.
- Leukocyte Adhesion Deficiency in a 42-Day-Old Infant: A Case Report.Clinical case reports · 2026Article
- Pycnodysostosis Unveiled: Craniofacial and Dental Manifestations in Focus.Case reports in dentistry · 2026Article
- Influence of Spiritual Support Program on Quality-of-Life of Stroke Survivors Post Substance Overdose: A Randomized Controlled Trial.Health science reports · 2025Article
- Traditional cheese consumption leading to hemodialysis induced by rifampin treatment: A case report.Toxicology reports · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introduction and importancePyknodysostosis is a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is an autosomal recessive disorder caused by mutations in the gene encoding cathepsin K. Pyknodysostosis is associated with short stature, brittle bones, and distinctive facial features. CASE PRESENTATION: This case report presents the clinical manifestations, diagnostic challenges, and management strategies of an 8-year-old male with pyknodysostosis, an extremely rare genetic disorder characterized by skeletal and craniofacial abnormalities. The patient's clinical presentation, radiographic findings, genetic testing results, and treatment approach are discussed. Additionally, the importance of genetic counseling and multidisciplinary care in managing this condition is emphasized. CLINICAL DISCUSSION: A multidisciplinary approach involving orthopedics, genetics, dentistry, and psychological support is crucial for managing patients with pyknodysostosis. Regular follow-up visits, careful monitoring of fractures, and appropriate interventions can improve the patient's quality of life and reduce complications.
conclusionThe importance of early recognition, genetic testing, and multidisciplinary care is emphasized for effective treatment and support. Further research is needed to enhance our understanding of this rare genetic disorder and develop targeted 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.