INTRODUCTION: Pena-Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micrognathia), camptodactyly, polyhydramnios and lung hypoplasia. CASE REPORT: We report prenatal ultrasonographic, antenatal MR and postnatal examination findings of a fetus with Pena-Shokeir syndrome. CONCLUSION: 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.
INTRODUCTION:Pena-Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micrognathia), camptodactyly, polyhydramnios and lung hypoplasia. CASE REPORT: We report prenatal ultrasonographic, antenatal MR and postnatal examination findings of a fetus with Pena-Shokeir syndrome. CONCLUSION: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.