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Unusual presentation of more common disease/injury
Case report
CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty
  1. Cheuk Lam Lau,
  2. Yuet Yee Chee,
  3. Brian Hon Yin Chung and
  4. Ming Sum Rosanna Wong
  1. Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China
  1. Correspondence to Dr Brian Hon Yin Chung; bhychung{at}hku.hk

Abstract

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 diagnosis is possible with the aid of clinical genetics. The current diagnostic criteria would need to be broadened with the inclusion of pathogenic CHD7 variant status as a major criterion. Further research on the function of CHD7 gene may also give us more insight on the pathogenic mechanism of various clinical features of CHARGE syndrome.

  • CPAP
  • genetics
  • congenital disorders

https://doi.org/10.1136/bcr-2019-233037

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    Footnotes

    • Contributors CLL is the first author to write up the case report. YYC, BHYC and MSRW have proofread the case report and made amendments.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.