Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report

BACKGROUND: Hypochondroplasia (HCH) is a common nonlethal skeletal dysplasia caused by pathogenic variations in the fibroblast growth factor receptor 3 (FGFR3) gene, and HCH has similar clinical manifestations with achondroplasia (ACH), which can be screened during the fetal period by prenatal ultra...

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Detalles Bibliográficos
Autores principales: Xie, Hua, Chen, Yulin, Xiong, Fei, Li, Jinrong, Yang, Fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979515/
https://www.ncbi.nlm.nih.gov/pubmed/36859260
http://dx.doi.org/10.1186/s12887-023-03917-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979515/
https://www.ncbi.nlm.nih.gov/pubmed/36859260
http://dx.doi.org/10.1186/s12887-023-03917-2

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