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- Title
Ultrasound assessment in a case of sialic acid storage disease.
- Authors
Carbillon, L.; Largillière, C.; Bucourt, M.; Scheuer-Niro, B.; Levaillant, J. M.; Uzan, M.
- Abstract
Abstract 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.
- Subjects
ASCITES; ULTRASONICS in obstetrics; AMNIOCENTESIS; DIAGNOSIS
- Publication
Ultrasound in Obstetrics & Gynecology, 2001, Vol 18, Issue 3, p272
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1046/j.0960-7692.2001.00515.x