1. Prenatal Bowel Findings in Male Siblings With a Confirmed <italic>FOXP3</italic> Mutation.
- Author
-
Griswold, Catherine, Durica, Allison R., Dennis, Larry G., and Jewell, Ann F.
- Subjects
SCURFIN (Protein) ,FETAL ultrasonic imaging ,GENETIC mutation ,BOWEL obstructions ,CYSTIC fibrosis - Abstract
There are multiple etiologies for fetal dilated bowel loops on ultrasonography (US), and we present a unique case of male siblings with a forkhead box P3 (
FOXP3 ) mutation. Both children presented with fetal bowel anomalies on prenatal US. Family histories of cystic fibrosis and immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome were reported. Amniocentesis in both pregnancies identified a normal male karyotype and the familial mutation associated with IPEX syndrome. IPEX syndrome is one of a group of conditions known as congenital diarrhea disorders. Other congenital diarrhea disorder cases have presented with similar prenatal US findings. As a result of these associations, we suggest considering IPEX syndrome as a potential cause of fetal bowel anomalies, particularly with a known family history. However, continued research into the phenotypic and genotypic correlations for IPEX syndrome is likely needed to better understand this possible prenatal presentation. [ABSTRACT FROM AUTHOR]- Published
- 2018
- Full Text
- View/download PDF