Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy

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

doi:10.1007/s11325-010-0479-4

Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy

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

Risultato della ricerca: Contributo in rivista › Articolo 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 originale	English
pagine (da-a)	5-10
Numero di pagine	6
Rivista	SLEEP & BREATHING
Volume	16
DOI	https://doi.org/10.1007/s11325-010-0479-4
Stato di pubblicazione	Pubblicato - 2012

Keywords

Adenotonsillectomy
Polysomnography

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10.1007/s11325-010-0479-4

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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.",

keywords = "Adenotonsillectomy, Polysomnography, Adenotonsillectomy, Polysomnography",

author = "{Della Marca}, Giacomo and Emanuele Scarano and Chiara Leoni and Serena Dittoni and Anna Losurdo and Elisa Testani and Salvatore Colicchio and Valentina Gnoni and Catello Vollono and Giuseppe Zampino",

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doi = "10.1007/s11325-010-0479-4",

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T1 - Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy

AU - Della Marca, Giacomo

AU - Scarano, Emanuele

AU - Leoni, Chiara

AU - Dittoni, Serena

AU - Losurdo, Anna

AU - Testani, Elisa

AU - Colicchio, Salvatore

AU - Gnoni, Valentina

AU - Vollono, Catello

AU - Zampino, Giuseppe

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

KW - Adenotonsillectomy

KW - Polysomnography

KW - Adenotonsillectomy

KW - Polysomnography

UR - http://hdl.handle.net/10807/7521

U2 - 10.1007/s11325-010-0479-4

DO - 10.1007/s11325-010-0479-4

M3 - Article

SN - 1522-1709

VL - 16

SP - 5

EP - 10

JO - SLEEP & BREATHING

JF - SLEEP & BREATHING

ER -

Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy

Abstract

Keywords

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