Sotos syndrome: Antenatal presentation
Identifieur interne : 006D44 ( Main/Exploration ); précédent : 006D43; suivant : 006D45Sotos syndrome: Antenatal presentation
Auteurs : Aidan Thomas [Canada] ; Edmond G. Lemire [Canada]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2008-05-15.
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. © 2008 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.32283
Affiliations:
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