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CHAPTER
48
Adult Limb Deformity Reconstruction in
Ost
eogenesis Imperfe
cta
Stephen Jacobsen
1
and Paul D. Sponseller
2
1
Johns Hopkins School of Medicine, Johns Hopkins Bloomberg Children's Center, Baltimore, MD,
USA,
2
Johns Hopkins Hospital, Johns Hopkins Bloomberg Children's Center, Baltimore, MD, USA
INTRODUCTION
techniques have been found to be effective at addressing
sequelae in these patients with relatively low rates of com-
plications and adverse outcomes.
In patients with OI, skeletal fragility tends to resolve
considerably following puberty, as ossification pro-
vides increasing stability to the bones of patients as they
approach skeletal maturity. For this reason, most surgi-
cal interventions to address the sequelae of osteogen-
esis imperfecta (OI) are performed during childhood,
in order to improve functional capacity in the short-
term and to provide stability during skeletal develop-
ment. However, adults with OI, particularly those with
a more severe phenotype of the disorder, can also suffer
multiple fractures, leading to limb deformities,
1
chronic
non-unions and subsequent impairment of functional
capacity.
2,3
In addition, adults with OI may continue to
suffer adverse effects of injuries sustained during child-
hood or complications from corrective procedures per-
formed at an earlier age.
Several surgical techniques have been developed to
address the sequelae associated with OI, in particular
to stabilize fragile bones and to correct the alignment of
deformed limbs. Sofield and Millar described a method
of treatment of deformities with multiple osteotomies
and intramedullary rods in children with OI,
4
and surgi-
cal interventions have progressed with the development
of telescoping rods,
5
less invasive methods
6,7
and addi-
tional modified techniques.
8-13
These techniques have been
shown to be effective in children, when symptoms of OI
are usually most severe and deformities can interfere with
proper growth and development, but their use has been
less well characterized in adult patients. However, adults
may also benefit from surgical limb reconstruction to
address a variety of sequelae related to OI. Several surgical
INDICATIONS
In a review of 15 adult patients with OI between the
ages of 20 and 70, the most common indications for sur-
gical intervention in the procedures reviewed were limb
deformities due to multiple fractures or malformation
(
Figure 48.1A
), chronic non-unions of previous fractures
or osteotomies (
Figure 48.2A
), and prominent implant
from earlier surgical procedures (
Figure 48.3A
). Several
patients had also developed stress fractures at the site
of deformity. All patients had some degree of preopera-
tive pain, stiffness and/or functional impairment as a
result of their conditions. In these patients, surgery was
indicated in order to correct limb deformities, stabilize
and promote osteogenesis in non-unions, remove or
realign prominent implants, relieve pain and improve
weight-bearing capacity.
Even without fracture or non-union, some adults
experience pain due to significant angulation of the long
bones. The load on the gracile bones may require com-
pensatory muscle activation or may produce intraosseous
strain. The most common sites for correction of deformi-
ties in our review were tibia and fibula, accounting for ten
procedures on eight patients, and the femora in five pro-
cedures on four patients. The most common deformities
of the tibia were valgus with or without anterior bowing,
as shown in
Figure 48.1A
, and in the femur, anterior bow-
ing and coxa vara or coxa valga were most common.
