ArticleBMJ case reports2013
Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.
Article in BMJ case reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Pycnodysostosis and obstructive sleep apnea: Observations on 10 cases.Respiratory medicine case reports · 2025Article
- Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis.Frontiers in oral health · 2023Article
- Clinical and radiographic features of pycnodysostosis: A case report.Journal of clinical and experimental dentistry · 2017Article
- Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.Endocrine reviews · 2017Review
- Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.European journal of medical research · 2016Article
- Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report.Journal of oral biology and craniofacial researchArticle
- PYKNODYSOSTOSIS (OSTEOPETROSIS ACRO-OSTEOLYTICA).AACE clinical case reportsArticle
- Pycnodysostosis: Clinicoradiographic Report of a Rare Case.Contemporary clinical dentistryArticle
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 genetic disease. Impaired osteoclastic function is the basis for typical phenotypic features and bone fragility. The main differential diagnosis is osteopetrosis, also associated with altered bone remodelling, but with a more severe prognosis. We describe the case of an 8-year-old boy who presented life-threatening obstructive sleep apnoea successfully managed with non-invasive ventilation. Haematological overlap phenotype included anaemia and altered bone marrow, more common in osteopetrosis. Molecular analysis of the CTSK gene revealed a mutation not previously described in the literature.
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