Upper airway obstruction in neonates and infants with CHARGE sndrome

Yoko Naito, Masataka Higuchi, Goro Koinuma, Michihiko Aramaki, Takao Takahashi, Kenjiro Kosaki

研究成果: Article査読

16 被引用数 (Scopus)


Upper airway obstruction can be life-threatening in neonates and infants with CHARGE syndrome, many of whom undergo intratracheal intubation early in life. Although some of these patients are successfully extubated, others require tracheotomy. Deciding whether to complete tracheotomy is challenging since there are no clear criteria upon which to base this decision. We assessed 10 infants with CHARGE syndrome, 5 of whom required tracheotomy. Fiberoptic laryngoscopy showed that all of these patients shared certain features: anteroposterior flattening of the larynx; short vocal cords; anteriorly positioned, tall and hypertrophic arytenoids obscuring the glottis; uncoordinated movement of the vocal cords, epiglottis and arytenoids; salivary pooling. In addition, we observed only in those requiring tracheotomy an obstructive supraglottis that prevented visualization of the vocal cords throughout respiration. Salivary retention was much more severe in this group. These findings might be helpful for predicting the need for an early tracheotomy in situations where the vocal cords are not visible throughout the entire respiratory cycle. Given the high prevalence of malformed larynx and abnormal cranial nerve function, which are not alleviated by supraglottoplasty, we suggest that a thorough investigation of upper airway obstructive entities other than laryngomalacia be performed before embarking on supraglottoplasty in patients with CHARGE syndrome.

ジャーナルAmerican Journal of Medical Genetics, Part A
出版ステータスPublished - 2007 8月 15

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)


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