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

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

SUBMITTER: Warnier H 

PROVIDER: S-EPMC9034487 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature