Observation of a Case of Roberts Syndrome in the Tabacoto Gold Zone, Bamako, Mali, July 2025

Abstract

RBS syndrome has rarely been reported in the African population. A previous study [4] reported a case of Roberts syndrome with tetraphocomelia. We report here the first case of Roberts syndrome in a tabakoto gold zone in Mali with cleft lip, amelia of the lower limbs, and absence of genital organs and anal canal. The patient was a newborn with severe polymalformation: cleft lip, complete agenesis of both lower limbs, absence of external genitalia and anal canal. The diagnosis is based on clinical examination, supplemented by imaging, with cytogenetics playing an essential role in identifying the aetiology. Treatment, which is mainly palliative, includes psychological support for the mother from the postnatal phase onwards. The prognosis remains poor, particularly in clinically severe forms.