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

• Published in: Fetal diagnosis and therapy Vol. 16; no. 3; p. 133
• Main Authors: Golombeck, K, Jacobs, V R, von Kaisenberg, C, Oppermann, H C, Reinecke-Lüthge, A, Weisner, D, Jonat, W
• Format: Journal Article
• Language: English
• Published: Switzerland 01-05-2001
• Subjects: Adult; Diagnosis, Differential; Female; Humans; Pregnancy; Radiography; Short Rib-Polydactyly Syndrome - diagnostic imaging; Short Rib-Polydactyly Syndrome - pathology; Ultrasonography, Prenatal
• ISSN: 1015-3837
• DOI: 10.1159/000053897

Short rib-polydactyly syndrome (SRPS; types I-IV) is an autosomal recessive, lethal skeletal dysplasia characterized by short-limb dysplasia, narrow thorax, and polydactyly. This syndrome is invariable and can be detected by 2-trimester ultrasound. The underlying gene has not been discovered yet. We report a case of SRPS subtype III Verma-Naumoff-Le Marec that was sonographically detected at 20 weeks' gestation and compare prenatal ultrasound with postmortem findings from pathology and radiology. Since the risk of recurrence 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 this rare case of SRPS is a valuable tool for identification and early management, since there are no specific biochemical or histopathological markers for this syndrome. Radiological and pathological findings confirmed SRPS type III and assisted in the differential diagnosis of the subtype.