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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

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