Antenatal ultrasound and MRI findings of Pena–Shokeir syndrome

Abstract

Pena-Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micrognathia), camptodactyly, polyhydramnios and lung hypoplasia. We report prenatal ultrasonographic, antenatal MR and postnatal examination findings of a fetus with Pena-Shokeir syndrome. Pena-Shokeir syndrome is a potentially lethal condition and most cases are diagnosed prenatally by ultrasound. Fetal MR can be performed to look associated neurological malformation.