RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164083675
T1 Rhizomelic Chondrodysplasia Punctata (RCDP)
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164083675
RD 2024/04/19
AB Rhizomelic  chondrodysplasia  punctata  is  a  class  of  peroxisomal  disorders  characterized  by  defective  plasmalogen  biosynthesis.  Punctate  calcifications,  rhizomelia,  congenital  cataract,  and  progressive  mental  retardation  are  the  main  features.  Poor  prognosis.