Short rib-polydactyly syndrome type III: Comparison of ultrasound, radiology, and pathology findings

Short rib-polydactyly syndrome (SRPS; types I-IV) is an autosomal recessive , lethal skeletal dysplasia characterized by short-limb dysplasia, narrow t horax, and poly dactyly, This syndrome is invariable and can be detected by 2-trimester ultrasound. The underlying gene has not been discovered yet, W e report a case of SRPS subtype III Verma-Naumoff-Le Marec that was sonogra phically detected at 20 weeks' gestation and compare prenatal ultrasound wi th postmortem findings from pathology and radiology, Since the risk of recu rrence is 25%, early ultrasound for consecutive pregnancies was advised and performed at 11+6 weeks' gestation in the following pregnancy without any findings. Ultrasound diagnosis in th is rare case of SRPS is a valuable too l for identification and early management, since there are no specific bioc hemical or histopathological markers for this syndrome. Radiological and pa thological findings confirmed SRPS type III and assisted in the differentia l diagnosis of the subtype. Copyright (C) 2001S.KargerAG,Basel.