Early prenatal diagnosis of congenital hypophosphatasia: case report.
Congenital hypophosphatasia is an autosomal recessive disorder, which usually has a fatal outcome during the neonatal period. This report presents the prenatal diagnosis of hypophosphatasia at 16 weeks of gestation. The characteristic ultrasonic findings in this abnormality demonstrate the superiority of ultrasound as compared with radiography.
D000328:Adult; D005260:Female; D005865:Gestational Age; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography