Rhizomelic Chondrodysplasia Punctata With Maternal Systemic Lupus Erythromatosus.
Indian Pediatr
;
2013 June; 50(6): 605-607
Article
in English
| IMSEAR
| ID: sea-169861
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Language:
English
Journal:
Indian Pediatr
Year:
2013
Type:
Article
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