Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports

INTRODUCTION AND IMPORTANCE: Thanatophoric dysplasia is a rare, fatal, and sporadic form of skeletal dysplasia caused by a mutation in fibroblast growth factor receptor 3 (FGFR3). It is characterized by a conical thorax, platyspondyly (flat vertebral bodies), and macrocephaly. This disorder can be d...

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Detalles Bibliográficos
Autores principales: Shrestha, Abhigan Babu, Chapagain, Sanskriti, Umar, Tungki Pratama, Yadav, Randhir Sagar, Shrestha, Shumneva, Bhandari, Kiran, Sedai, Ranjana, Poudel, Aryan, Mahat, Chadani, Sharma, Shreeya, Bhandari, Alish
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617885/
https://www.ncbi.nlm.nih.gov/pubmed/37915702
http://dx.doi.org/10.1097/MS9.0000000000001356

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617885/
https://www.ncbi.nlm.nih.gov/pubmed/37915702
http://dx.doi.org/10.1097/MS9.0000000000001356

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