Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis

Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant...

Descripción completa

Detalles Bibliográficos
Autores principales: Audu, Lamidi, Gambo, Amina, Baduku, Tokan Silas, Farouk, Bilkisu, Yahaya, Anisa, Jacob, Kefas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9534681/
https://www.ncbi.nlm.nih.gov/pubmed/36213390
http://dx.doi.org/10.1155/2022/3056324

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9534681/
https://www.ncbi.nlm.nih.gov/pubmed/36213390
http://dx.doi.org/10.1155/2022/3056324

Ejemplares similares