Pena-Shokeir Syndrome: A Case Report

Abstract

Introduction: Pena-Shokeir syndrome (fetal akinesia deformation sequence, FADS) is an autosomal recessivelethal disorder characterized by combination of abnormal limb position, facial anomalies (micrognathia),
camptodactyly, restrictive fetal movement with reduced or absent response to acoustic stimulation, growth restriction, polyhydramnios, and pulmonary hypoplasia. Limb defects like rocker bottom foot and clubfoot are other prominents of the syndrome. Case report: Obstetric ultrasonographic examination of a 24-year-old pregnant woman, consanguineous with her husband, revealed a single female fetus with contractures of the lower limbs, persistent flexion of the bilateral
wrist, elbow joints and the knee joints consistent with Pena Shokeir syndrome phenotype. The parents were informed about the diagnosis and its poor prognosis. Fetus had no viability, therefore the termination of the
pregnancy was offered to the parents and they accepted. We report the prenatal ultrasonographic and postnatal clinical findings suggestive of Pena-Shokeir syndrome case. Conclusion: Pena–Shokeir syndrome is a potentially lethal condition and most cases are diagnosed prenatally by
ultrasound.