Rhizomelic Chondrodysplasia Punctata: A case Report and Brief Review of Literature

Vishnu Kumar Goyal, R Jora, P Sharma, S Sundarajan

Abstract


We are reporting a 3½-month-old male child who presented to us with growth failure, but detailed evaluation revealed clinicoradiological picture compatible with rhizomelic chondrodysplasia punctata; a rare autosomal recessive peroxisomal disorder.


Keywords


Epiphyseal calcifi cations, Growth failure, Rhizomelic chondrodysplasia punctate

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References


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