Coats-plus syndrome: when imaging leads to genetic diagnosis

BMJ Case Rep. 2022 May 17;15(5):e249702. doi: 10.1136/bcr-2022-249702.

Carolina Maia¹, Mariana Batista², Filipe Palavra^{3

4}, Joana Pinto⁵

¹ Medical Image Department, Neuroradiology Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal carolinamaia.areal@gmail.com.
² Dermatology and Venereology Department, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Coimbra, Portugal.
³ Center for Child Development - Neuropaediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal.
⁴ Coimbra Institute for Clinical and Biomedical Research (iCBR), Universidade de Coimbra Faculdade de Medicina, Coimbra, Portugal.
⁵ Medical Image Department, Neuroradiology Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal.

No abstract available

Keywords: Dermatology; Genetics; Neuroimaging; Paediatrics (drugs and medicines).

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