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Article

Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review.

American journal of medical genetics. Part A - 1 Aug 2014

Testani Elisa, Scarano Emanuele, Leoni Chiara, Dittoni Serena, Losurdo Anna, Colicchio Salvatore, Gnoni Valentina, Vollono Catello, Zampino Giuseppe, Paludetti Gaetano, Della Marca Giacomo

Abstract excerpt

Pycnodysostosis is an autosomal recessive disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover; a review of the literature suggests that pycnodysostosis is frequently associated with severe respiratory obstruction, which needs surgical treatment. The aim of this paper is to describe the surgical treatment of a 3½-year-old girl affected by Pycnodysostosis complicated by...

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PMID: 24715708
DOI: 10.1002/ajmg.a.36557

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review.PMID 24715708Read ↗

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