CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty. Issue 7 (22nd July 2020)

• Record Type: Journal Article
• Authors: Lau, Cheuk Lam; Chee, Yuet Yee; Chung, Brian Hon Yin; Wong, Ming Sum Rosanna
• Is Part Of: BMJ case reports. Volume 13:Issue 7(2020)
• Publication Date: 2020-07-22
• Subjects: CPAP -- genetics -- congenital disorders; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2019-233037
• Languages: English
• ISSNs: 1757-790X

Abstract

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.