Prenatal diagnosis of Pena-Shokeir syndrome as a rare lethal disorder influencing fetal neuromusculary system: A case report

Pena-Shokeir syndrome type I (fetal akinesia deformation sequence, FADS) is a mostly autosomal recessive lethal disorder characterised by combination of abnormal limb position, restrictive fetal movement with reduced or absent response to acoustic stimulation, growth restriction, polyhydramnios, and pulmonary hypoplasia. Limb defects like camptodactyly, rocker bottom feet and clubfoot are other prominents of the syndrome. Obstetric ultrasonographic examination of a 24-year-old pregnant woman, consanguineous with her husband, revealed a single male fetus with contractures of the upper and the lower limbs and polyhydramnios due to the absence of swallowing, 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 and postnatal sonographic, pathologic and genetic diagnostic features of a Pena-Shokeir syndrome case.