{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T01:47:55Z","timestamp":1771033675215,"version":"3.50.1"},"reference-count":15,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2013-200590","type":"journal-article","created":{"date-parts":[[2013,9,20]],"date-time":"2013-09-20T06:29:55Z","timestamp":1379658595000},"page":"bcr2013200590","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case"],"prefix":"10.1136","volume":"2013","author":[{"given":"In\u00eas","family":"Girbal","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar de Lisboa Norte, Lisboa, Portugal"}]},{"given":"Teresa","family":"Nunes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar de Lisboa Norte, Lisboa, Portugal"}]},{"given":"Ana","family":"Medeira","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital de Santa Maria, Centro Hospitalar de Lisboa Norte, Lisboa, Portugal"}]},{"given":"Teresa","family":"Bandeira","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar de Lisboa Norte, Lisboa, Portugal"}]}],"member":"239","published-online":{"date-parts":[[2013,9,20]]},"reference":[{"key":"2025082800171828000_2013.sep20_1.bcr2013200590.1","first-page":"267","article-title":"Deux observations d'une affection osseuse condensante: la pycnodysostose","volume":"2013","author":"Maroteaux","year":"1962","journal-title":"Arch Fr Pediatr"},{"key":"2025082800171828000_2013.sep20_1.bcr2013200590.2","first-page":"558","article-title":"An unusual case of pycnodysostosis","volume":"2013","author":"Kumar","year":"1998","journal-title":"Arch Dis Child"},{"key":"2025082800171828000_2013.sep20_1.bcr2013200590.3","first-page":"304","article-title":"Pycnodysostosis. 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