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Year : 2013  |  Volume : 2  |  Issue : 2  |  Page : 108-109

An atypical form rhizomelic chondrodysplasia punctata in a newborn

Department of Paediatrics, Medical College Hospital, Kolkata, West Bengal, India

Correspondence Address:
Sitangshu Chatterjee
Doctors Chummery Hostel, Room No. 06, 41, Eden Hospital Road, Kolkata - 700 073, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2249-4847.116415

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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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