Rhizomelic chondrodysplasia punctata (RCDP): investigations
Evidence-based neurology checklist on rhizomelic chondrodysplasia punctata (rcdp): investigations: Blood tests Decreased red cell plasmalogen Increased plasma phytanic acid Magnetic resonance imaging (MRI) Evoked potentials Skeletal X-ray Other investigations
Blood tests
- Decreased red cell plasmalogen
- Increased plasma phytanic acid
Magnetic resonance imaging (MRI)
Evoked potentials
Skeletal X-ray
Other investigations
References
- Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis 2013; 8:174.
- Bams-Mengerink AM, Majoie CB, Duran M, et al. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology 2006; 66:798-803.
