Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications. Pediatric Anesthesia 2009;19:212e7.Bonthuis D, Morava E, Booij L, Stuve Wiedemann syn- frome and related syndromes: case report and possible anesthetic complications. Paediatric Anaesthesia, Volu- me ...
Stüve-Wiedemann syndrome (SWS) is a rare genetic disorder characterized by skeletal dysplasia and severe dysautonomia, evidencing a difficult airway approach and likely increased malignant hyperthermia susceptibility. Developmental dysmorphism classically worsens with age, therefore translating in a poor prog...
We present an Afro-Caribbean family with two siblings diagnosed with Stuve-Wiedemann syndrome. The underlying loss-of-function mutation in the leukemia inhibitory factor receptor gene is thought to impair proper functioning of the JAK/STAT 3 pathway. As this affects normal functioning of T-helper ...
Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendations in such rare diseases. We report a new case and provide the first ...
Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome. Am J Med Genet 2003;121A:156-8.Raas-Rothschild A, Ergaz Schaltiel Z, Bar Ziv J, Rein AJ: Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome. Am J Med Genet. 2003, 121A: 156-8. 10.1002/ajmg....
Koul R, Al-Kindy A, Mani R, Sankhla D, Al-Futaisi A: One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome. Sultan Qaboos Univ Med J 2013, 13:301-305.Koul R, Al-Kindy A, Mani R, Sankhla D,...
Contact was made with the European Skeletal Dysplasia Network, and a provisional diagnosis of Stuve-Wiedemann syndrome was suggested based on this review. Specific genetic tests showed a previously unreported homozygous mutation of leukaemia inhibitory factor receptor gene, confirming the diagnosis. This ...
N. Dagoneau, et al., Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, Am. J. Hum. Genet. 74 (2) (2004) 298e305.Dagoneau N, et al. (2004) Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz...
Syndromic scoliosisDelayed tetraparesisDelayed tetraplegiaScoliosis surgery complicationWe present 2 patients with Stuve-Wiedemann syndrome (SWS) who suffered delayed tetraparesis following posterior spinal surgery for scoliosis. Delayed tetraparesis after a syndromic thoracic scoliosis correction has never ...
Unusual Stuve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.NeuroscienceMedicine(GeneralA woman was isozygous for a novel mutation in the leukemia inhibitory factor receptor gene (LIFR) (c.2170C>G; p.Pro724Ala) which disrupts LIFR downstream signaling and results in St眉ve-...