CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty

We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with CHARGE syndrome and are well described in previous studies. However, with the t...

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Vydáno v:BMJ Case Rep
Hlavní autoři: Lau, Cheuk Lam, Chee, Yuet Yee, Chung, Brian Hon Yin, Wong, Ming Sum Rosanna
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2020
Témata:
Unusual Presentation of More Common Disease/Injury
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7380955/
https://ncbi.nlm.nih.gov/pubmed/32699053
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-233037
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