Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation

✍ Scribed by Lyndon M. Hill; Janice Leary

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 183 KB
• Volume: 18
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199811)18:11<1198::aid-pd418>3.0.co;2-n

✦ Synopsis

Short-rib polydactyly dysplasia (SRP) is an autosomal recessive, lethal skeletal dysplasia. Sonographic assessment of subsequent pregnancies is, therefore, recommended. This case indicates that this diagnosis can be made in the latter part of the first trimester.

A 30-year-old multigravid woman presented at 13 weeks' gestation for an ultrasound examination. She had had a termination of pregnancy for a fetus with pathologically confirmed short-rib polydactyly dysplasia, type I (Saldino-Noonan). On transvaginal sonography, a narrow chest, symmetrical micromelia, polydactyly and anasarca were present. An autopsy confirmed recurrent SRP.

Short-rib polydactyly dysplasia may be diagnosed with transvaginal sonography in the first trimester. 1998 John Wiley & Sons, Ltd.