Sotos syndrome: antenatal presentation
Aidan Thomas1, Edmond G Lemire
1IWK Health Centre, Maritime Medical Genetics Service, Halifax, Nova Scotia, Canada.
American Journal of Medical Genetics. Part A
|April 5, 2008
Summary
Sotos syndrome in pregnancy can present with macrocephaly and polyhydramnios. This condition should be considered in Down syndrome risk pregnancies with abnormal ultrasounds.
Area of Science:
- Genetics
- Maternal-Fetal Medicine
Background:
- Limited data exists on Sotos syndrome's clinical presentation during pregnancy.
- Sotos syndrome is a genetic disorder characterized by overgrowth.
Observation:
- A pregnancy exhibited positive maternal serum screening and ultrasound anomalies: macrocephaly, polyhydramnios, and reduced fetal movement.
- The fetus was later diagnosed with Sotos syndrome via molecular analysis.
Findings:
- This case is the first to report an elevated Down syndrome risk in a pregnancy with confirmed Sotos syndrome.
- Prenatal diagnosis of Sotos syndrome was supported by specific ultrasound markers.
Implications:
- Sotos syndrome should be considered in the differential diagnosis for pregnancies with increased Down syndrome risk and suggestive ultrasound findings.
- Early consideration aids in appropriate genetic counseling and management planning for Sotos syndrome.
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