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
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author Chatterjee, Sitangshu
Roy, Praytay
Das, Ira
Sinha, M. K.
author_facet Chatterjee, Sitangshu
Roy, Praytay
Das, Ira
Sinha, M. K.
author_sort Chatterjee, Sitangshu
collection PubMed
description 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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spelling pubmed-37751342013-09-18 An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn Chatterjee, Sitangshu Roy, Praytay Das, Ira Sinha, M. K. J Clin Neonatol Images in Clinical Neonatology 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. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3775134/ /pubmed/24049758 http://dx.doi.org/10.4103/2249-4847.116415 Text en Copyright: © Journal of Clinical Neonatology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Images in Clinical Neonatology
Chatterjee, Sitangshu
Roy, Praytay
Das, Ira
Sinha, M. K.
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn
title An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn
title_full An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn
title_fullStr An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn
title_full_unstemmed An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn
title_short An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn
title_sort atypical form rhizomelic chondrodysplasia punctata in a newborn
topic Images in Clinical Neonatology
url 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
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