pediatrics
Peroxisomal Disorders
Rhizomelic chondrodysplasia punctata
This defect of peroxisomal biogenesis is caused byPEX7gene mutations and characterized by skeletal changes that include midface hypoplasia, strikingly short proximal limbs, frontal bossing, small nares, cataracts, ichthyosis, and profound psychomotor retardation. Vertebral clefts are also common. Diagnosis of rhizomelic chondrodysplasia punctata is suspected by x-ray findings, elevation of serum phytanic acid, and low red blood cell plasmalogen levels; VLCFA levels are normal. Confirmation is by genetic testing. There is no specific treatment for rhizomelic chondrodysplasia punctata. 