[Pena-Shokeir phenotype (fetal akinesia/hypokinesia sequence)]

Pena-Shokeir syndrome is a rare lethal disorder which clinical phenotype is the result of a deformation sequence caused by fetal akinesia/hypokinesia. In approximately 50 % cases an autosomal recessive mode of inheritance were documented. Main clinical characteristics of Pena-Shokeir syndrome are: multiple ankylosis, pulmonary hypoplasia and facial dysmorphism. We have described female newborn with pulmonary hypoplasia, distal joint contractures and facial characteristics of Pena Shokeir syndrome. Our patient had hip and knee ankyloses, ulnar deviation of the hands, aberrant hand position--similar to that of trisomy 18, absent dermal ridges on the palms, talipes valgus and facial dysmorphism (prominent eyes, micrognathia, poorly folded and posteriorly rotated ears). During pregnancy polyhidramnion was documented. Among CNS abnormalities, agenesis of corpus callosum was found. Because of eventration of right hemidiaphragm, weakness of intercostal muskles and pulmonary hypoplasia, child was artificially ventilated from the birth, and died due to pulmonary complication in the second month of the life. Although the majority of those live-borne with Pena Shokeir syndrome die within the first month of life, postnatal recognition requires genetic counseling of parents and obtaining early prenatal diagnosis in next pregnancy.