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.
Department of Paediatrics, Medical College Hospital, Kolkata, West Bengal, India.
Sitangshu
S
Chatterjee
Praytay
P
Roy
Ira
I
Das
M K
MK
Sinha
Autosomal recessive disorder; Rhizomelic chondrodysplasia punctata; chondrodysplasia punctata; peroxisomal disorder