Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus.
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.
Department of Pediatric Medicine, Medical College and Hospitals, 88 College Street, Kolkata, India. preences.amri107@gmail.com
Amrita
A
Roy
Pranab
P
De
Swapna
S
Chakraborty
D001323:Autoantibodies / Q000032:analysis; D001324:Autoantigens / Q000032:analysis; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000175:diagnosis* / Q000276:immunology; D006801:Humans; D007231:Infant, Newborn; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis* / Q000276:immunology; D008297:Male; D009035:Mothers; D020733:RNA, Small Cytoplasmic / Q000032:analysis; D012261:Ribonucleoproteins / Q000032:analysis; D000099207:SS-A Antigen
D001323:Autoantibodies; D001324:Autoantigens; D020733:RNA, Small Cytoplasmic; D012261:Ribonucleoproteins; C116006:RO60 protein, human; D000099207:SS-A Antigen