ArticleJournal of oral biology and craniofacial research
Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report.
Article in Journal of oral biology and craniofacial research. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Pycnodysostosis Unveiled: Craniofacial and Dental Manifestations in Focus.Case reports in dentistry · 2026Article
- Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.Frontiers in endocrinology · 2025Review
- Clinical and radiographic characteristics of pycnodysostosis: A systematic review.Imaging science in dentistry · 2024Review
- Pyknodysostosis: A case report of an 8-year-old male with a rare genetic disorder.International journal of surgery case reports · 2023Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pycnodysostosis is a rare autosomal recessive condition caused by the mutation of CTSK gene. CTSK regulates the activity of Cathepsin K which is responsible for osteoclast-mediated bone resorption. This mutation causes the bones to become dense, sclerotic, brittle, and thus, prone to fracture. Affected individuals have normal cognitive development and life expectancy, however, the quality of life depends on the early diagnosis of the condition. The patient presents with striking clinical (short stature, brachydactyly) and radiological (frontal and parieto-occipital bossing, open sutures, and fontanelles, acro-osteolysis of terminal phalanges) features making the diagnosis clinico-radiographic. In atypical or mild cases with overlapping features, gene mapping is advocated. A plethora of dental anomalies and characteristic craniofacial dysmorphia puts the dentist in a position to diagnose such a case.
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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.