Fetal case of xeroderma pigmentosum--first report of an autopsy case

Fetal autopsy case of xeroderma pigmentosum was reported. This male fetus of 24 gestational weeks was prenatally diagnosed as xeroderma pigmentosum by detecting the DNA-repair defect of the amniotic fluid cells. Autopsy revealed not only maldevelopment of the fetus (stillbirth) in general for the standard, but also showed slight developmental retardation of various organs including kidneys and lungs, which could be examined by microscopic analysis. It was suggested that abnormality of the somatic organs began to appear at the fetal stage in this case of xeroderma pigmentosum.