Abstract
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 a severe sleep-related respiratory disorder. The surgical treatment, consisting of adenotonsillectomy and palatoplasty, resulted in a striking amelioration of respiratory parameters and increased posterior airway space, and allowed the patient to avoid tracheotomy while awaiting for maxillo-mandibular surgery.
Lingua originale | Inglese |
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pagine (da-a) | 2029-2035 |
Numero di pagine | 7 |
Rivista | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A |
Volume | 164A |
DOI | |
Stato di pubblicazione | Pubblicato - 2014 |
Keywords
- OSAS
- adenotonsillectomy
- palatoplasty
- polysomnography
- pycnodysostosis
- sleep
- sleep apnea