This case series reports four unrelated patients from sub-Saharan Africa with genetically confirmed ERS through pathogenic variants of the FAM20A gene.
Each case presents the classic oral features of ERS with varying degrees of severity.
Notably, two patients displayed renal involvement: one with nephrocalcinosis and impaired renal function, and another with small kidneys but preserved function.
The remaining two patients showed no renal manifestations at the time of reporting.
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The study emphasizes the critical role of dentists in the early recognition of ERS, as oral findings are often the first signs of the syndrome.
Early referral to nephrologists and genetic specialists is essential, particularly in resource-limited settings, to ensure comprehensive multidisciplinary care and long-term monitoring.
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