Rectal Atresia and bile duct paucity in a newborn with Pitt Hopkins syndrome

Abstract

We describe the genetic diagnosis of Pitt Hopkins syndrome of a newborn female who demonstrated a cleft lip and palate on fetal ultrasound at 20 weeks gestation but no further diagnostic tests were performed per parental request. After birth the child underwent genetic testing and was diagnosed with a deletion of the long arm of chromosome 18 which included the TCF4 gene causing Pitt Hopkins syndrome. We present common findings seen with Pitt Hopkins as well as three unusual physical exam findings that have not been previously described. Our objective is to increase awareness of this rare syndrome and bring light to possible previously unreported physical findings to aid in the diagnosis.