Sleep Med Psychophysiol.  2020 Dec;27(2):77-81. 10.14401/KASMED.2020.27.2.77.

Severe Obstructive Sleep Apnea in a 7-Year-Boy with Achondroplasia :A Case Report

• Hwang J
• Seo JH

• KMID: 2510601
• DOI: http://doi.org/10.14401/KASMED.2020.27.2.77

Abstract

Obstructive sleep apnea (OSA) is a sleep-related breathing disorder in which narrowing and obstruction of the upper airway lead to frequent arousal and decreased arterial oxygenation during sleep. OSA is more common in children with genetic disorders like achondroplasia compared to children without genetic disorders. Achondroplasia is genetic disorder characterized by hypoplasia of the facial bone and skull base with foramen magnum stenosis, resulting in exceedingly high frequency of OSA. The authors present a case of a patient with achondroplasia diagnosed with severe OSA through polysomnography after adenectomy showed little therapeutic effect and who was treated with continuous positive airway pressure.

Keyword

Achondroplasia; Continuous positive airway pressure; Obstructive sleep apnea; Polysomnography