title: Sotos syndrome: antenatal presentation.
abstract: There is little published information regarding the clinical presentation of Sotos syndrome in pregnancy. In this report, we describe the antenatal presentation of a child subsequently diagnosed with Sotos syndrome by molecular analysis. The pregnancy was complicated by a positive maternal serum screen and abnormal ultrasound findings including macrocephaly, polyhydramnios and decreased fetal movements. This is the first report of an elevated Down syndrome risk in a pregnancy with confirmed Sotos syndrome. Sotos syndrome should be included in the differential diagnosis of newborns with a normal karyotype where the pregnancy has demonstrated an increased risk for Down syndrome by maternal serum screening, especially in the presence of supportive ultrasound findings.
authors.affiliation: IWK Health Centre, Maritime Medical Genetics Service, Halifax, Nova Scotia, Canada.
authors.forename: Aidan
authors.initials: A
authors.lastname: Thomas
authors.forename: Edmond G
authors.initials: EG
authors.lastname: Lemire
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005320:Fetal Macrosomia / Q000000981:diagnostic imaging; D005877:Gigantism / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis; D013577:Syndrome; D016216:Ultrasonography, Prenatal