Abstract
There is no reported case dealing with the relationship of polyhydramniosis and possible gastrointestinal dysmotility in fetuses with Freeman-Sheldon syndrome (FSS). A case report and literature review of FSS with gastrointestinal dysmotility in a premature newborn delivered due to polyhydramnios was presented. A male baby was born from a 24-year-old mother at 30 weeks of gestation due to polyhydramnios through an emergency cesarean section at a birth weight of 1,460 g. The diagnosis of FSS was considered with the clinical findings. It was also confirmed with the genetic screening, that is revealed a heterozygous likely pathogenic variant in the MYH3 gene. In dealing with FSS fetuses and newborns, perinatologists and neonatologists need to pay attention to the possibility of polyhydramnios due to impaired gastrointestinal motility in addition to other congenital malformations and continuing neonatal problems developed under the influence of gastrointestinal dysmotility.
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