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关键词:
- Crouzon综合征 /
- 中耳炎,分泌性 /
- 腺样体肥大
Abstract: Clinical data from a case of Crouzon syndrome with secretory otitis media in our department was collected and the related literatures were reviewed. Whole exome sequecing and Sanger sequencing were performed to analyze genetic cause. The 6-year old patient with Crouzon syndrome had snoring and mouth breathing during sleep for 2 years, and was found hearing loss for 2 weeks. The results of endoscopy showed adenoid hypertrophy and secretory otitis media of both ears. And CT scan proved chronic rhinosinusitis. Myringotomy and adenoidectomy were done under general anesthesia. The follow-up at 6 months showed normal sleep and hearing level. A heterozygous fibroblast growth factor receptor 2 missense mutation(c.1061C>G, p.S354C) in exon 8 was identified in this patient.-
Key words:
- Crouzon syndrome /
- otitis media, secretory /
- adenoid hypertrophy
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