SynthesisOrphanet journal of rare diseases2022
Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.
Synthesis in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Severe Suprasystemic Refractory Pulmonary Hypertension in a Neonate with Stüve-Wiedemann Syndrome Associated with Biallelic LIFR Variants: Molecular Insights and a Neonatal Case Report.International journal of molecular sciences · 2026Article
- Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature.Clinical case reports · 2026Article
- Article
- Heat stroke associated with novel leukaemia inhibitory factor receptor gene variant in a Chinese infant.Open life sciences · 2025Article
- A comparative view of human and mouse telencephalon inhibitory neuron development.Development (Cambridge, England) · 2025Review
- Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in theFrontiers in pediatrics · 2024Article
- A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.Frontiers in pediatrics · 2024Article
- LIF signaling regulates outer radial glial to interneuron fate during human cortical development.Cell stem cell · 2023Article
- A rare presentation of multiple eruptive vellus hair cysts and dystrophic nails in a pediatric patient with Stüve-Wiedemann syndrome.JAAD case reports · 2023Article
- Neuroparalytic keratopathy in Stüve-Wiedemann syndrome treated with tarsoconjunctival flap.Indian journal of ophthalmology · 2023Article
- Case Report: Stüve-Wiedemann syndrome-a rare cause of persistent pulmonary hypertension of the newborn.Frontiers in pediatrics · 2023Article
- Implications of neuropathy and management of the corneal surface in a patient with Stuve-Wiedemann syndrome.Romanian journal of ophthalmologyArticle
- The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve-wiedemann Syndrome: Retrospective Case Series and Prenatal Review.Journal of medical ultrasoundArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundStuve-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.
objectiveTo 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.
resultsIn 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%).
conclusionsNatural 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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.