CASE REPORTS   

Minerva Ginecologica 2007 February;59(1):91-4

Copyright © 2007 EDIZIONI MINERVA MEDICA

language: English

Ultrasound findings of a rare congenital skeletal dysplasia: Stüve-Wiedemann sindrome

Rugolo S., Cavallaro A., Giuffrida L., Cianci A.

Department of Microbiological and Gynecological Sciences, University of Catania, Catania, Italy

Stüve-Wiedemann syndrome (SWS) is an extremely rare congenital skeletal disorder associated with significant newborn mortality and morbidity in survivors. Prenatal diagnosis is reportedly possible, but a precise diagnosis is difficult because SWS is part of a heterogeneous group of bone dysplasias. Mole-cular analysis remains the gold standard for establishing a specific diagnosis of this kind of disorders and for providing effective prenatal counselling. This article presents a case of SWS suspected at prenatal ultrasound in the second trimester of pregnancy and confirmed by multidisciplinary approach at birth.