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Orphanet Journal of Rare Diseases

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Open Access 01-12-2022 | Care | Review

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

Authors: Hélène Warnier, Christophe Barrea, Sarah Bethlen, Isabelle Schrouff, Julie Harvengt

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

Abstract

Background

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 systematic review of all previous published cases.

Objective

To better describe the timeline of SWS and to improve paediatric management.

Data sources

SWS English publications available on Pubmed until 31/03/2021.

Study selection

Case description combining typical osteo-articular and dysautonomic involvement (with 2 items by categories required for children < 2 years and 3 items > 2 years).

Data extraction

Demographic, clinical, genetics and outcome data.

Results

In our cohort of 69 patients, the median age at report was 32 months. Only 46% presented antenatal signs. Mortality rate is higher during the first 2 years (42% < 2 years; 10% > 2 years) mainly due to respiratory failure, pulmonary arterial hypertension appearing to be a poor prognosis factor (mortality rate 63%). After 2 years, orthopaedic symptoms significantly increase including joint mobility restriction (81%), spinal deformations (77%) and fractures (61%).

Conclusions

Natural history of SWS is marked by a high mortality rate before 2 years due to dysautonomic disturbances. A specialized multidisciplinary approach is needed to address these early mortality risks and then adapt to the specific, mainly orthopaedic, needs of patients after 2 years of age. Further research is required to provide clinical guidelines and improve pre-natal counselling.

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Title: Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review
Authors: Hélène Warnier
Christophe Barrea
Sarah Bethlen
Isabelle Schrouff
Julie Harvengt
Publication date: 01-12-2022
Publisher: BioMed Central
Keyword: Care
Published in: Orphanet Journal of Rare Diseases / Issue 1/2022
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-022-02323-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Objective

Data sources

Study selection

Data extraction

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Objective

Data sources

Study selection

Data extraction

Results

Conclusions

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