ArticleOxford medical case reports2026
Pediatric pycnodysostosis complicated by severe obstructive sleep apnea: a case report.
Article in Oxford medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundPycnodysostosis is a rare genetic bone disorder linked to mutations in the CTSK gene, which causes osteoclast dysfunction. We report the case of a child with pycnodysostosis complicated by severe obstructive sleep apnea syndrome (OSAS). CASE PRESENTATION: The patient was a 9-years-old girl born to consanguineous parents. Clinical examination revealed short stature, characteristic facial features, acromicria, and several skeletal abnormalities. X-rays revealed diffuse osteosclerosis associated with bone abnormalities characteristic of pycnodysostosis. Polysomnography confirmed severe OSA, with an apnea-hypopnea index (AHI) of 49.8 events per hour.
conclusionThis observation highlights the association between pycnodysostosis and nocturnal respiratory impairment, and underscores the importance of systematic screening for sleep-disordered breathing by polysomnography in these patients. Management is based on a multidisciplinary approach and long-term follow-up in order to optimize the functional prognosis and quality of life of patients and their families.
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