| Literature DB >> 23942406 |
Amrita Roy1, Pranab De, Swapna Chakraborty.
Abstract
We report Rhizomelic Chondrodysplasia Punctata (RDCP), a rare, autosomal recessive disorder with rhizomelic shortening of limbs, congenital cataracts and seizures but without any biochemical abnormality. The mother of the baby developed Systemic Lupus Erythromatosus (SLE) with Ro/SSA antibodies 11 months after delivery. Ro/SSA antibodies may generate calreticulin antibodies causing characteristic skeletal changes.Entities:
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Year: 2013 PMID： 23942406
Source DB: PubMed Journal: Indian Pediatr ISSN： 0019-6061 Impact factor: 1.411