DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20213743

A rare case of proximal short limb dwarfism-rhizomelic chondrodysplasia punctata type-2

Puppala Sanjana, Triveni ., Bushra ., Vijaya Prasanna Boyeni

Abstract


Rhizomelic chondrodysplasia punctata (RCDP) is one of the rare peroxisomal disorder (autosomal recessive inheritance) due to altered phytanic acid alpha oxidation and plasmalogen synthesis. RCDP 1 is the most frequent form of RCDP. It is a peroxisomal biosynthesis disorder. RCDP 2 and RCDP 3 are disorders of individual peroxisome enzyme. Authors described a case of RCDP type 2 in a 13 months old girl with characteristic features of typical chondrodysplastic facies, bilateral cataract, rhizomelic shortening of limbs, growth and global developmental delay; radiological features showed epiphyseal stippling. Genetic analysis showed apparent homozygous deletion of c.1848delC after full sequencing of her GNPAT genes.


Keywords


Chondrodysplasia, Epiphyseal stippling, Plasmalogens, Phytanic acid

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References


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