Catatonic syndrome and Baraitser Winter syndrome: Case report and review of the literature

Eur J Med Genet. 2022 Sep;65(9):104559. doi: 10.1016/j.ejmg.2022.104559. Epub 2022 Jul 6.

Authors

E Diab¹, G Morin², L Hery³, V Barbier⁴, G Cottin⁵, F Jobic², M Tir⁶

Affiliations

¹ Department of Neurology, CHU Amiens Picardie, France. Electronic address: diab.eva@chu-amiens.fr.
² Department of Clinical Genetic, CHU Amiens Picardie, France.
³ Department of Pediatric Neurology, CHU Amiens Picardie, France.
⁴ Department of Physical and Rehabilitation Medicine, CHU Amiens Picardie, France.
⁵ Department of Psychiatry, CHU Amiens Picardie, France.
⁶ Department of Neurology, CHU Amiens Picardie, France.

PMID: 35803559
DOI: 10.1016/j.ejmg.2022.104559

No abstract available

Keywords: BWCFF; Catatonic syndrome; Extrapyramidal symptoms.

Publication types

Case Reports
Review

MeSH terms

Catatonia* / diagnosis
Catatonia* / genetics
Craniofacial Abnormalities*
Epilepsy*
Facies
Humans
Intellectual Disability
Lissencephaly

Supplementary concepts

Fryns-Aftimos Syndrome