Ultrasound findings of a rare congenital skeletal dysplasia: Stüve-Wiedemann syndrome.
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. Molecular 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.
Rugolo
S
S
Department of Microbiological and Gynecological Sciences, University of Catania, Ospedale S. Bambino, Via Torre del Vescovo 2, 95100 Catania, Italy.
Cavallaro
A
A
Giuffrida
L
L
Cianci
A
A
D000328:Adult; D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal