ArticleIntractable & rare diseases research2014
Current research on pycnodysostosis.
Article in Intractable & rare diseases research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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
19 citing papers in PubMed, 45 citations in OpenAlex.
- Article
- Pycnodysostosis With Papilledema and Isolated Low Parathyroid Hormone Levels in an Eight-Year-Old Girl: A Genetically Confirmed Case Report.Clinical case reports · 2026Article
- Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis.Cureus · 2023Article
- A rare case of pycnodysostosis during pregnancy.Clinical case reports · 2022Article
- A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to TreatmentJournal of clinical research in pediatric endocrinology · 2020Article
- Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.Cells · 2020Review
- Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
- Pycnodysostosis: Novel Variants inJournal of pediatric genetics · 2018Article
- Anaesthetic Considerations in a Patient with Pycnodysostosis undergoing Caesarean Delivery.Case reports in anesthesiology · 2018Article
- Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.Medicine · 2017Article
- A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.Medicine · 2017Article
- Laparoscopic Omohyoid Muscle Transection Surgery: A Novel Procedure Against Omohyoid Muscle Syndrome.Chinese medical journal · 2016Article
- Pycnodysostosis: Clinicoradiographic Report of a Rare Case.Contemporary clinical dentistryArticle
- Difficult airway in a pediatric case of pycodysostosis.Anesthesia, essays and researchesArticle
- Article
- Short stature Revealing a Pycnodysostosis: A Case Report.Journal of orthopaedic case reportsArticle
- Pycnodysostosis with Osteomyelitis of Maxilla: Case Report of Radiological Analysis.Contemporary clinical dentistryArticle
- A rare case of pycnodysostosis: Technical difficulties in managing long bone fractures.Journal of clinical orthopaedics and traumaArticle
- Fracture Management in Pyknodysostosis - A Rare Case Report.Journal of orthopaedic case reportsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pycnodysostosis is a rare autosomal recessive disorder caused by an inactivating mutation in cathepsin K (CTSK) and characterized by dysmorphic facial features, a short stature, acroosteolysis, osteosclerosis with increased bone fragility, and delayed closure of cranial sutures. Patients usually present with short stature or dysmorphic features the Pediatric Endocrinology or Genetics clinics, with atypical fractures to the orthopedics clinics or hematological abnormalities to the hematology clinics. However, under-diagnosis or misdiagnosis of this condition is a major issue. Pycnodysostosis is not a life threatening condition, but craniosynostosis, frequent fractures, respiratory-sleep problems, and dental problems may cause significant morbidity. Although no specific treatment for this disorder has been described, patients should be followed for complications and treated accordingly. A specific treatment for the disorder must be established in the future to prevent complications and improve quality of life for patients in the current era of advanced molecular research.
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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.