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Article

Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.

BMJ case reports - 20 Sept 2013

Girbal Inês, Nunes Teresa, Medeira Ana, Bandeira Teresa

Abstract excerpt

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...

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Source

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Identifiers

PMID: 24057333
DOI: 10.1136/bcr-2013-200590
PMCID: PMC3794180

Genes

CTSK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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