Antenatal ultrasound and MRI findings of Pena-Shokeir syndrome.

Background: Pena-Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micrognathia), camptodactyly, polyhydramnios and lung hypoplasia.

Methods: We report prenatal ultrasonographic, antenatal MR and postnatal examination findings of a fetus with Pena-Shokeir syndrome.

Conclusions: 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.