Short-Rib-Polydactyly Syndrome Presenting with Increased Nuchal Translucency in a High-Risk Family
Authors:
- A.P. SoukaASA.P. Souka
- I. KavalakisIKI. Kavalakis
- T. HaritosTHT. Haritos
- C. BasayiannisCBC. Basayiannis
- P. AntsaklisPAP. Antsaklis
- A. AntsaklisAAA. Antsaklis
- 1 August 2006
- journal article
- case report
- Published by S. Karger AG in Fetal Diagnosis and Therapy
- Vol. 21 (5) , 401-403
Abstract
Short-rib-polydactyly syndrome represents a group of rare, autosomal recessive, lethal skeletal dysplasias characterized by hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities. We describe an affected fetus from a high-risk family presenting with increased nuchal translucency at 13 weeks of pregnancy. The diagnosis was established in the 2nd trimester.Keywords
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