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연골무형성증(Achondroplasia)환자에서 폐쇄성 수면무호흡 증후군의 수술적 치료 1예

A Case of Operative Treatment of Obstructive Sleep Apnea Syndrome in Achondroplasia Patient

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주제분류이비인후과학

초록

Achondroplasia is the most common form of dwarfism. It is inherited in an autosomal dominant pattern, usually caused by an missense mutation of FGFR3 (fibroblast growth factor receptor 3). Clinical features of achondroplasia are well known and include skull enlargement with narrowing of skull base and foramen magnum. These features may lead to respiratory disturbances such as sleep apnea. In this study, the authors experienced a case of operative treatment of obstructive sleep apnea syndrome in achondroplasia patent, we report this case with a literature review. (J Clinical Otolaryngol 2010;21:265-269)

Abstract

Achondroplasia is the most common form of dwarfism. It is inherited in an autosomal dominant pattern, usually caused by an missense mutation of FGFR3 (fibroblast growth factor receptor 3). Clinical features of achondroplasia are well known and include skull enlargement with narrowing of skull base and foramen magnum. These features may lead to respiratory disturbances such as sleep apnea. In this study, the authors experienced a case of operative treatment of obstructive sleep apnea syndrome in achondroplasia patent, we report this case with a literature review. (J Clinical Otolaryngol 2010;21:265-269)

참고문헌 (13)

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  8. Powell NB, "Contemporary surgery for obstructive sleep apnea syndrome", Clin Exp Otorhinolaryngo, 2(3), pp.107~114 (2009)
  9. Sisk EA, "Obstructive sleep apnea in children with achondroplasia: Surgical and anesthetic considerations", Otolaryngol Head Neck Surg, 120(2), pp.248~254 (1999)
  10. Son JY, "Ischemic brain damage induced after adenotonsillectomy in achondroplasia", Head Neck Surg, 138(5), pp.688~689 (2008)
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