Maternal Mixed Connective Tissue Disease and Offspring with Chondrodysplasia Punctata

Rhizomelic Chondrodysplasia Punctata With Maternal Systemic Lupus

History, epidemiology, pathogenesis, clinical manifestations, diagnosis, antimicrobial susceptibility and prevention. Indian J Med Microbiol. 2006;24:7-19. 2. Sinclair D, Preziosi MP, John TJ, Greenwood B. The epidemiology of meningococcal disease in India. Trop Med Int Health. 2010;15:1421–35. 3. Khatami A, Pollard AJ. The epidemiology of meningococcal disease and the impact of vaccines. Exper...

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 characterist...

[Mixed connective tissue disease].

Mixed connective tissue disease deserves to be a distinct disease entity due to the persistent citation of this disease in the literature since the original description by Sharp in 1972, in spite of the presence of several criticisms against the independency of this disease. The characteristic features of mixed connective tissue disease are: 1) the presence of anti-U1snRNP antibody with high ti...

Chondrodysplasia punctata: case report with dental findings.

Rhizomelic Chondrodysplasia Punctata

The rhizomelic form of chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized biochemically by an impairment of plasmalogen biosynthesis and phytanate catabolism. We have now found that the maturation of peroxisomal 3-oxoacyl-CoA thiolase is impaired in fibroblasts from RCDP patients. To establish the subcellular localization of the 3-oxoacylCoA thiolase precursor protein, cul...