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

박홍석1, 최장원1, 구수권1, 송창윤1,*
Hong-Seok Park1, Jang-Won Choi1, Soo-Kweon Koo1, Chang-Yun Song1,*
Author Information & Copyright
1부산성모병원 이비인후과
1Department of Otorhinolaryngology-Head and Neck Surgery, Busan St. Mary’s Medical Center, Busan, Korea
*교신저자: 송창윤, 608-838 부산광역시 남구 용호동 538-41 부산성모병원 이비인후과 전화 :(051) 933-7214·전송:(051) 956-1956 E-mail:mdssong@hanmail.net

© Copyright 2010 The Busan, Ulsan, Gyeoungnam Branch of Korean Society of Otolaryngology-Head and Neck Surgery. This is an Open-Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Received: Jun 28, 2010; Revised: Jul 13, 2010; Accepted: Aug 04, 2010

Published Online: May 31, 2020

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)

Keywords: 연골 무형성증; 폐쇄성 수면무호흡 증후군; 편도 절제술
Keywords: Achondroplasia; Sleep apnea, obstructive; Tonsillectomy