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Article

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

BMJ case reports - 22 Jul 2020

Lau Cheuk Lam, Chee Yuet Yee, Chung Brian Hon Yin, Wong Ming Sum Rosanna

Abstract excerpt

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 traditional diagnostic criteria, diagnosis is difficult without the presence of coloboma or choanal atresia. Early...

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Identifiers

PMID: 32699053
DOI: 10.1136/bcr-2019-233037
PMCID: PMC7380955

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