Hypophosphatasia.
An autopsy case of hypophosphatasia in lethal form in a fetus was reported. The female fetus of 40 gestational weeks was prenatally diagnosed as the specific type of congenital disease, because of no detection of calcification of whole bones by X-ray examination. Autopsy showed decrease of the anterio-posterior diameter of the chest and marked short extremities. Laboratory data revealed an extreme low value of alkaline phosphatase in the serum. Microscopical examinations showed marked retardation of calcification in the trabecule of whole bones. Family pedigree in second generations suggested that this disease was an autosomal recessive disorder and the parents were heterozygous carriers.
D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D001344:Autopsy; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011859:Radiography