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

Full Text:

PDF

References


Bosworth MQ. Rhizomelic chondrodysplasia punctata. Gale Encyclopedia of Genetic Disorders Part I. Farmington Hills, Michigan: The Gale Group Inc.; 2002.

Karabayır N, Keskindemirci G, Adal E, Korkmaz O. A case of rhizomelic chondrodysplasia punctata in newborn. Case Rep Med. 2014;2014:879679.

Oswald G, Lawson C, Raymond G, Golden W, Braverman N. Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. Am J Med Genet. 2011;155(12):3160-3.

Braverman NE, Moser AB, Steinberg SJ. Rhizomelic chondrodysplasia punctata type 1. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. Seattle: University of Washington; 2001: 16.

Barr DG, Kirk JM, Howasi M, Wanders RJ, Schutgens RB. Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. Arch Dis Child. 1993;68:415-7.

Kliegman R, Stanton B, Geme J, Schor N, Behrman R, Kleigman R, et al. Disorders of very long chain fatty acids. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: Elsevier Publishers and Distributors; 2012: 462-7.

Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin Dysmorphol. 2008;17(4):229-41.

Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim Biophys Acta. 2006;1763(12):1733-48.