Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

15 Citazioni (Scopus)

Abstract

Pycnodysostosis (OMIM:265800) is an autosomal recessive genetic disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover and a deterioration of the bone structure. Our aim was to describe a 5 year-old patient affected by pycnodysostosis, associated with an extremely severe obstructive sleep apnea syndrome, who was treated effectively with a combination of upper airway surgery and positive pressure ventilation.
Lingua originaleEnglish
pagine (da-a)5-10
Numero di pagine6
RivistaSLEEP & BREATHING
Volume16
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Adenotonsillectomy
  • Polysomnography

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