Pedigrees and radiographs of upper limbs of patients P1, P2, and P5. Pedigrees of the familial cases P1 (A) and P2 (B) showing the occurrence of RUS (left area black) and CAMT/congenital aplastic anemia (right area black); radiographs of the upper limbs demonstrating proximal RUS in family members (small symbols indicate stillborn fetuses). (C) Pedigree and radiograph of sporadic case P5; radiograph of the forearm of P5 in pronated state, ruling out RUS. Genotype is included for the analyzed individuals of the pedigrees. M, wild-type allele; m, mutated allele.