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

Minerva Ginecol. 2007 Feb;59(1):91-4.


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.

MeSH terms

  • Adult
  • Bone Diseases, Developmental / congenital*
  • Bone Diseases, Developmental / diagnostic imaging*
  • Female
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal*