Ultrasound assessment in a case of sialic acid storage disease
| Autor: | J. M. Levaillant, M. Uzan, B. Scheuer-Niro, L. Carbillon, M. Bucourt, C. Largillière |
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| Rok vydání: | 2001 |
| Předmět: |
Pregnancy
Pathology medicine.medical_specialty Fetus Radiological and Ultrasound Technology medicine.diagnostic_test business.industry Obstetrics and Gynecology Autopsy General Medicine medicine.disease Sialic Acid Storage Disease Reproductive Medicine Micromelia Ascites medicine Lysosomal storage disease Amniocentesis Radiology Nuclear Medicine and imaging medicine.symptom business |
| Zdroj: | Ultrasound in Obstetrics and Gynecology. 18:272-274 |
| ISSN: | 0960-7692 |
| DOI: | 10.1046/j.0960-7692.2001.00515.x |
| Popis: | A woman was referred to our unit at 25 weeks' gestation because of fetal ascites. Conventional and three-dimensional ultrasound examinations revealed coarse facies and micromelia which strongly suggested storage disease, despite the absence of an index familial case. Amniocentesis was performed and, in view of the poor prognosis, the pregnancy was terminated. Autopsy confirmed all the sonographic features and the cultured amniocytes confirmed the diagnosis of infantile sialic acid storage disease. |
| Databáze: | OpenAIRE |
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