Early prenatal diagnosis of congenital hypophosphatasia: Case report |
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| Authors: | J W Wladimiroff MD PhD M F Niermeijer J J Van Der Harten P A Stewart F G A Versteegh W Blom J G M Huijmans |
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| Institution: | 1. Department of Clinical Genetics Erasmus University Rotterdam;2. Department Pediatrics. Sophia Childrens Hospital Erasmus University Rotterdam;3. Department of Obstetrics & Gynaecoiogy University Hospital Dijkzigt Rotterdam;4. Department of Pathology Free University Amsterdam |
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| Abstract: | 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. |
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| Keywords: | Congenital hypophosphatasia Prenatal diagnosis Diagnostic ultrasound |
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