title: Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too.
abstract: OBJECTIVE
  Stüve-Wiedemann Syndrome (SWS; MIM 601 559) is an autosomal-recessive syndrome characterized by myotonia with mask-like face, skeletal dysplasia and intrauterine growth restriction. Other clinical findings are pursed mouth, hypoplastic midface, congenital contractures and muscular hypotonia. We discuss about the importance of prenatal diagnosis in SWS and the possibility of survival after the first year of life in patients suffering from this disease.
  
  
  METHODS
  we report a case of Stüve-Wiedemann Syndrome detected by morphological examination in our Operative Unit. Prenatal presumptive diagnosis was given with two-dimensional and 3-D probe, during the second trimester of pregnancy. Caesarean section was performed at 38(th) week of gestation. Then diagnosis was genetically performed.
  
  
  RESULTS
  at birth, clinical examination was concordant with the ultrasound findings. Genetic analysis also confirmed the presumptive diagnosis. Episodes of respiratory distress and hyperthermia decreased until it disappeared altogether at 1 year of age.
  
  
  CONCLUSIONS
  we underline the usefulness of ultrasound study of fetal skeleton in the prenatal diagnosis. It allowed us to do an early detection of birth defects and their appropriate management.
authors.affiliation: Department of Medical Surgical Specialties, University of Catania, Catania, Italy.
authors.forename: Anita
authors.initials: A
authors.lastname: Catavorello
authors.forename: Salvatore Giovanni
authors.initials: SG
authors.lastname: Vitale
authors.forename: Diego
authors.initials: D
authors.lastname: Rossetti
authors.forename: Lisa
authors.initials: L
authors.lastname: Caldaci
authors.forename: Marco Marzio
authors.initials: MM
authors.lastname: Panella
keywords: Stüve-Wiedemann Syndrome; management; outcome; prenatal diagnosis