Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children.
Salwa A MusaAreej A IbrahimSamar S HassanMatthew B JohnsonAsmahan T BasheerAli M ArabiMohamed A AbdullahPublished in: International journal of pediatric endocrinology (2020)
FBS is not uncommon in Sudan where there is a high rate of consanguinity. Many cases are likely missed because of variable presentation and lack of public and professionals' awareness. This is the first series to describe this condition from Sub-Saharan Africa.