Literature DB >> 32910413

Anesthesia for Stüve-Wiedemann syndrome: a rare adult patient case report.

Vanessa Artilheiro1, Filipa Portela2, Ana Teresa Reis2.   

Abstract

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 prognosis. In this article, we describe a case of a 27-year-old woman diagnosed with SWS proposed for abscess drainage under dissociative anesthesia. This patient has outlived the life expectancy described for SWS, acknowledging the importance of reporting this rare adult clinical case in what SWS anesthetic management is concerned.

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Keywords:  Anesthetic management; Difficult airway approach; Rare genetic disorder; Stüve-Wiedemann syndrome

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Year:  2020        PMID: 32910413     DOI: 10.1007/s13353-020-00581-5

Source DB:  PubMed          Journal:  J Appl Genet        ISSN: 1234-1983            Impact factor:   3.240


  1 in total

Review 1.  Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.

Authors:  Hélène Warnier; Christophe Barrea; Sarah Bethlen; Isabelle Schrouff; Julie Harvengt
Journal:  Orphanet J Rare Dis       Date:  2022-04-23       Impact factor: 4.303

  1 in total

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