Early prenatal diagnosis of congenital hypophosphatasia: Case report
| Autor: | W. Blom, Patricia A. Stewart, M. F. Niermeijer, F. G. A. Versteegh, J. W. Wladimiroff, J. J. Van Der Harten, J. G. M. Huijmans |
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| Rok vydání: | 1985 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Fatal outcome business.industry Radiography Ultrasound Hypophosphatasia Obstetrics and Gynecology Gestational Age Prenatal diagnosis medicine.disease Surgery Pregnancy Prenatal Diagnosis medicine Congenital hypophosphatasia Humans Gestation Female Abnormality business Genetics (clinical) Ultrasonography |
| Zdroj: | Prenatal Diagnosis. 5:47-52 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.1970050109 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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