A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management

BACKGROUND: Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreat...

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Detalles Bibliográficos
Autores principales: Khan, Tuba Rashid, Dolce, Alison, Goodspeed, Kimberly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848676/
https://www.ncbi.nlm.nih.gov/pubmed/35172777
http://dx.doi.org/10.1186/s12883-022-02573-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848676/
https://www.ncbi.nlm.nih.gov/pubmed/35172777
http://dx.doi.org/10.1186/s12883-022-02573-w

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