[Pena-Shokeir syndrome: report of a case with benign outcome].Pediatr Med Chir. 1995 Jan-Feb; 17(1):73-5.PM
Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation and by fetal akinesia or hypokinesia that leads to craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. The case that we report had a favourable evolution, although there was at birth a severe respiratory distress. EMG studies revealed deficit of innervation. Contraceptive therapy, wrongly used by the mother in the first period of pregnancy, played, probably, a concomitant role in the pathogenesis of the syndrome.