De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review
To our knowledge, this is the first reported case of CS with polydactyly in a very preterm infant at approximately 28 weeks gestation. Furthermore, we summarized the clinical and genetic findings of previously reported cases with overlapping CS and IHH phenotypes. This study expands the clinical phenotypes of CHD7-related disorders and provides new insights into early diagnosis, management, and future research on the relationship between CS and IHH.
Authors
- Junhong Wu
- Zhuo Huang (ORCID: https://orcid.org/0000-0001-9198-4778)
- Binlu Zhu (ORCID: https://orcid.org/0000-0001-6152-843X)
- Yu Tan
- Yi Yang (ORCID: https://orcid.org/0000-0002-8660-3501)
- Rong Zou
- Wencong Yao (ORCID: https://orcid.org/0009-0001-6598-7577)
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
- Science and Technology Department of Sichuan Province (CN)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-11-12
- DOI
- https://doi.org/10.1186/s12887-025-06251-x
- Citations
- 1
- Primary Topic
- Congenital Ear and Nasal Anomalies
- Type
- article
- Field-Weighted Citation Impact
- 1.63
Funders
- National Natural Science Foundation of China
- Sichuan University
- Health Commission of Sichuan Province