Open AccessAn atypical form rhizomelic chondrodysplasia punctata in a newborn
Author(s) -
Sitangshu Chatterjee,
P.B. Late Roy,
Ira Das,
M. K. Sinha
Publication year - 2013
Publication title -
journal of clinical neonatology/journal of clinical neonatology
Language(s) - English
Resource type - Journals
eISSN - 1658-6093
pISSN - 2249-4847
DOI - 10.4103/2249-4847.116415
Subject(s) - chondrodysplasia punctata , medicine , peroxisomal disorder , pediatrics , anatomy , peroxisome , receptor
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.