Semon Paulin Kam

Severe congenital four-limb reduction defect with bilateral humeroradial synostosis and Pierre Robin sequence in a low-resource setting: a case report and differential-diagnostic approach from Burkina Faso

Severe limb reduction defects are rare congenital malformations that remain poorly documented in sub-Saharan Africa. When all four limbs are severely affected, the resulting phenotype is aetiologically heterogeneous and overlaps several monogenic syndromes — including the femoral...