Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report

Tricho-hepato-enteric (THES) syndrome is a severe congenital diarrheal disorder. It is caused by homozygous or compound heterozygous mutations in the <i>SKIC3</i> (THES1) or <i>SKIC2</i> (THES2) gene. Primary manifestations include nine clinical signs: Ιntractable diarrhea, hair abnormalities, facial dysmorphism, IUGR, immunodeficiency, skin abnormalities, liver disease, congenital cardiac defects and platelet anomalies in the 96 cases reported to date. Α case of early, isolated severe fetal growth restriction with a non-placental etiology is presented, consistent with postnatal findings reported in the literature. Furthermore, this case introduces two novel prenatal ultrasound findings: Severe echogenic bowel, and dolichocephaly in contribution to the limited body of knowledge. Trio-whole exome sequencing (WES) analysis revealed that the embryo was compound heterozygous for two mutations in <i>SKIC2</i>, both of which were of parental origin. The report also discusses potential mechanisms underlying the observed ultrasound signs, highlighting that the expanded application of WES in prenatal settings will add more cases of sporadic disorder.