EC Paediatrics

We report the first documented paediatric case of Wolf-Hirschhorn syndrome, a rare genetic chromosomal abnormality, in a small island developing country in the Eastern Caribbean, Barbados. Although there are documented case reports on Wolf-Hirschhorn syndrome worldwide, few studies have described the condition in patients of Afro-Caribbean descent and from resource-limited countries.

This case highlights the importance of access to specialized investigations to aid in patient diagnosis and management. Many cases with complex neuro-genetic conditions often go undiagnosed in resource-limited countries due to the lack of access to genetic testing. In order to provide comprehensive medical care to children with Wolf-Hirschhorn syndrome, and other genetic disorders, it is imperative to have timely confirmation of diagnosis. This allows for comprehensive management of the disorder, considering the natural history of the disease, its progression and prognosis.

This case is presented with the purpose of increasing clinical knowledge of the condition in resource-limited countries.

Keywords: Greek Helmet Facies; Wolf-Hirschhorn; 4p Deletion; Resource-Limited Countries

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