This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Wax, J. R. Articles by Cartin, A. Search for Related Content PubMed PubMed Citation Articles by Wax, J. R. Articles by Cartin, A.

Second-Trimester Sonographic Diagnosis of Diastrophic Dysplasia

Report of 2 Index Cases

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology (J.R.W., M.C., M.G.P., J.B., A.C.), and Department of Radiology (C.G.), Maine Medical Center, Portland, Maine USA; and Division of Medical Genetics, Department of Pediatrics, Barbara Bush Children’s Hospital, Portland, Maine USA (W.S.).

Address correspondence and reprint requests to Joseph R. Wax, MD, MMC Ob/Gyn Associates, 887 Congress St, Suite 200, Portland, ME 04102 USA. E-mail: waxj{at}mmc.org.

Objective. To describe the sonographic features of diastrophic dysplasia in 2 second-trimester index offspring. Methods. Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia. Results. Each fetus had severe bilateral upper and lower extremity long bone shortening, hitchhiker thumbs and great toes, and clubbed feet, indicating a diagnosis of diastrophic dysplasia. Conclusions. Index cases of diastrophic dysplasia may be correctly diagnosed on the basis of second-trimester sonography.

Key Words: diastrophic dysplasia • prenatal diagnosis • skeletal dysplasia • sonography

Abbreviations: DTD, diastrophic dysplasia • DTDST, diastrophic dysplasia sulfate transporter

This article has been cited by other articles:

				F. Rypens, J. Dubois, L. Garel, J.-C. Fournet, J. L. Michaud, and A. Grignon Obstetric US: watch the fetal hands. RadioGraphics, May 1, 2006; 26(3): 811 - 829. [Abstract] [Full Text] [PDF]