A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate

Rhizomelic chondrodysplasia punctata (RCDP) is a rare, multisystem, autosomal recessive, peroxisomal disorder of a family of congenital disorders known as chondrodysplasia calcificans punctate (CCP). RCDP is characterized by disproportionately short extremities (rhizomelia), congenital cataracts, an...

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Detalles Bibliográficos
Autores principales: Javaid, Haroon A, Fawzy, Nader A, Mostafa, Ramy, Shehata, Nabil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9767646/
https://www.ncbi.nlm.nih.gov/pubmed/36561594
http://dx.doi.org/10.7759/cureus.31702

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9767646/
https://www.ncbi.nlm.nih.gov/pubmed/36561594
http://dx.doi.org/10.7759/cureus.31702

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