Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.
Orphanet J Rare Dis
; 17(1): 174, 2022 04 23.
Article
em En
| MEDLINE
| ID: mdl-35461249
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
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Insuficiência Respiratória
/
Anormalidades Múltiplas
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Exostose Múltipla Hereditária
Tipo de estudo:
Guideline
/
Overview
/
Prognostic_studies
/
Systematic_reviews
Limite:
Child
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Female
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Humans
/
Pregnancy
Idioma:
En
Revista:
Orphanet J Rare Dis
Assunto da revista:
MEDICINA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Bélgica