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EP06.05: Prenatal ultrasound findings of congenital disorders of glycosylation type Id: a case report.
- Source :
-
Ultrasound in Obstetrics & Gynecology . Sep2024 Supplement 1, Vol. 64, p149-149. 1p. - Publication Year :
- 2024
-
Abstract
- This article discusses a case report of a rare congenital disorder called congenital disorders of glycosylation type Id (CDG-Id). CDG-Id is characterized by a deficiency in alpha-1,3-mannosyltransferase caused by a variant in the ALG3 gene. The article describes a pregnant woman who had a previous pregnancy with fetal malformations and genetic testing revealed the ALG3 gene variant. Subsequent pregnancies also showed fetal malformations consistent with CDG-Id. The article emphasizes the importance of prenatal ultrasound and genetic testing in identifying CDG-Id and providing valuable information for clinical management. [Extracted from the article]
Details
- Language :
- English
- ISSN :
- 09607692
- Volume :
- 64
- Database :
- Academic Search Index
- Journal :
- Ultrasound in Obstetrics & Gynecology
- Publication Type :
- Academic Journal
- Accession number :
- 179532354
- Full Text :
- https://doi.org/10.1002/uog.28179