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- Title
EP07.05: Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.
- Authors
Jiang, Y.; Lin, S.; Huang, C.; Xie, H.
- Abstract
This article discusses a case of prenatal diagnosis of geleophysic dysplasia (GD), a rare autosomal recessive disorder. The case involves a 27-year-old pregnant woman who was referred to a medical center due to suspected fetal abnormalities. Genetic testing confirmed two heterozygous mutations in the ADAMTSL2 gene, which is associated with Type 1 GD. Detailed ultrasound examinations revealed various physical abnormalities in the fetus, including short long bones, brachydactyly, distinctive facial features, and cardiac and pulmonary anomalies. The patient ultimately chose to terminate the pregnancy, and postmortem examination confirmed the prenatal ultrasound findings. The article highlights the importance of prenatal ultrasound assessment in interpreting fetal genotype and identifying potential causative variants.
- Subjects
CHORIONIC villus sampling; AUTOPSY; ABORTION; FETAL abnormalities; GENETIC testing
- Publication
Ultrasound in Obstetrics & Gynecology, 2024, Vol 64, p169
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.28254