Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report

• Principais autores: Hua Xie (Autor), Yulin Chen (Autor), Fei Xiong (Autor), Jinrong Li (Autor), Fan Yang (Autor)
• Formato: Livro
• Publicado em: BMC, 2023-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract 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 prenat...