An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn

Rhizomelic Chondrodysplasia punctata (RCDP) is an autosomal recessive metabolic disorder affecting mainly peroxisomal function. We describe a case of RCDP in a 12 days old newborn based on the clinical and radiological ground without any major systemic structural or functional abnormalities.

Detalles Bibliográficos
Autores principales: Chatterjee, Sitangshu, Roy, Praytay, Das, Ira, Sinha, M. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Images in Clinical Neonatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3775134/
https://www.ncbi.nlm.nih.gov/pubmed/24049758
http://dx.doi.org/10.4103/2249-4847.116415
Descripción
Sumario:Rhizomelic Chondrodysplasia punctata (RCDP) is an autosomal recessive metabolic disorder affecting mainly peroxisomal function. We describe a case of RCDP in a 12 days old newborn based on the clinical and radiological ground without any major systemic structural or functional abnormalities.

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