Nathalie: Osteogenesis Imperfecta (Type IV) Case Study
Nathalie was diagnosed with osteogenesis imperfecta (Type IV) as a toddler. Osteogenesis imperfecta is a congenital genetic condition that causes brittle bones which fracture easily from minor impact and in some cases for no reason. As a result, Nathalie experienced multiple fractures throughout her childhood which required several surgical procedures. Given the nature of osteogenesis imperfecta, these childhood fractures were to be expected. However, Nathalie’s parents’ diligence in immediately seeking care has helped to limit the long-term effects that could have resulted from her injuries. Nathalie is now in her early teens and doing very well overall. http://www.davidsfeldmanmd.com/patient-education/case-studies/nathalie-osteogenesis-imperfecta
Published on: Mar 3, 2016
Transcripts - Nathalie: Osteogenesis Imperfecta (Type IV) Case Study
Case Study: Nathalie
Age Range During Treatment
4 Years to 8 Years
David S. Feldman, MD
Chief of Pediatric Orthopedic Surgery
Professor of Orthopedic Surgery & Pediatrics
NYU Langone Medical Center & NYU Hospital for Joint Diseases
I first examined and diagnosed Nathalie with osteogenesis imperfecta
(Type IV) when she was a toddler. Osteogenesis imperfecta is a
congenital genetic condition that causes brittle bones which fracture
easily from minor impact and in some cases for no reason.
At the age of four, Nathalie’s school informed her parents that she was
walking with a limp. Nathalie was taken to the doctor and x-rays
revealed a problem with her left hip which the doctor thought was a
result of an old injury and recommended surgery.
During Nathalie’s initial evaluation I found
that she had no pain when moving her
hips/legs and her right hip had full range
of motion but her left hip lacked
approximately 30 degrees of range of
movement away from her body
(abduction). Her left leg was
approximately 2cm (.78in) short.
CT scans of Nathalie’s hips revealed that
the angle between the head and shaft of
her femur were less than the 120 degrees
of a normal hip. This indicated a condition
known as coxa vara which causes the leg
on the affected side to be short resulting
in a limp.
Right femoral head and shaft at a normal angle
while the left is at an angle of less than 120
degrees which indicates coxa vara.
Nathalie’s left hip’s coxa vara required surgical intervention in the form
of a femoral osteotomy but her bone density had to be assessed prior
to surgery due to her osteogenesis imperfecta. A bone density study
demonstrated that Nathalie’s bone density was below the norm and
bisphosphonates such as Pamidronate / Zalendronate might need to be
considered to alter her cycle of bone formation.
Opening Wedge Osteotomy of the Left Proximal Femur
with Insertion of a Cannulated Hip Compression Screw
A lateral incision was made over
the left proximal femur and a
guide wire was placed at which
point a 140-degree Richards
cannulated hip compression
screw and plate were applied. An
osteotomy was then performed
and four screws and bone grafts
were applied to the femur helping
to achieve a 40 degree
osteotomy. The wound was then
closed in layers and a single leg
spica cast was applied.
Richards cannulated hip compression screw and plate
applied to Nathalie’s left femur.
Observations: 6 Weeks
The spica cast had been removed at 4 weeks. Nathalie’s left leg
became caught between the pillows of her sofa and resulted in
immediate pain which made her hesitant to bear weight on the leg. This
minor trauma to the leg resulted in a distal femoral fracture and
supracondylar femur fracture. However, the fractures were in proper
alignment so her left leg was placed in a knee immobilizer to allow for
Observations: 2 Months
Nathalie was still wearing her knee immobilizer and using a wheelchair.
There was no longer any tenderness or swelling over her fracture sites
but she was advised to not bear weight on her left leg for another two
Observations: 4 Months
X-rays revealed that Nathalie’s left
femoral osteotomy site had healed and
her plate was still in place. She had good
range of motion with minimal limb length
discrepancy and a limp. Nathalie was
doing well overall but I recommended
physical therapy to resolve her limp.
Healed femoral osteotomy and well
corrected coxa vara with plate in place
Removal of Hardware from Left Femur As Well As Open
Reduction Internal Fixation (ORIF) of Left Femoral
Fracture with Insertion of Antegrade to the Greater
Trochanter Rush Rod
Natalie sustained a femoral fracture below
her plate which required surgical
An incision was made over the previous
surgical scar and the iliotibial band was
cut. The vastus lateralis (muscle on the
side of the thigh) was lifted off of the femur
and the plate. The wound was irrigated
and a rush rod was inserted into the femur
to hold the fracture in proper rotation and
alignment. The wound was irrigated once
more and closed in layers. Dry sterile
dressings and a single leg spica cast were
Rush rod inserted into femur to stabilize
Observations: 2 Months
Two months after surgery, Nathalie’s knee
had full range of motion and her surgical
wounds and fractures were well healed.
She was using a wheelchair to get around
but plans were made for her begin walking
on her own.
Healed femoral fracture two months
Observations: 4 Months
X-rays showed that Nathalie’s left femoral fracture was healed and her
rod was in place. She had approximately 2cm (.78in) of limb length
discrepancy but full range of motion with no pain.
Observations: 8 Months
Nathalie sustained an injury to her arm after falling while playing at
home. Her mother applied a sling from a previous injury which seemed
to improve the pain but her mom grew concerned when she became
unable to lift her arm over her head. There was tenderness over her
proximal humerus but full range of motion in her elbow, wrist, and hand.
X-rays revealed a proximal humerus fracture which was then treated
with a sling.
Observations: 8 Months & 2 Weeks
Nathalie visited me for a follow up on her humerus fracture. She had
been wearing a shoulder immobilizer and had full range of motion and
no complaints of pain at the time of her visit. X-rays revealed a healing
left proximal humerus fracture.
Prophylactic Rodding of the Left Femur
As Nathalie grew, the rod in her left femur
became too short for the bone so plans
were made to insert a new rod to prevent
A small medial opening was made on the
knee (arthrotomy). An awl was used to
create an opening just above the posterior
knee ligament (cruciate ligament) and a
rod was then inserted into Nathalie’s left
femur bypassing the other rod in order to
prevent stress rod. This created a two rod
system that would provide support while
allowing for growth. Healed femoral and rush rod in place one
month after injury / surgery.
Open Reduction and Internal Fixation (ORIF) of Left
Femur Fracture with Removal of Bent Rush Rod from
Nathalie was taken to the emergency room
after a fall to the floor. The impact broke
and bent the rod in her left femur and she
underwent emergency surgery the next
day to remove and replace the damaged
An incision was made over the fracture
and extended to the trochanter. The
damaged rush rod was cut and removed
from the fracture site in segments. An awl
was then used to create a medullary canal
(cavity within a bone) and a new large rush
rod was inserted which achieved good
fixation and correction.
Pre-op x-ray showing left femoral fracture and
bent rush rod.
Observations: 11 Days
When Nathalie’s post surgical dressings were removed, her post
surgical site was found to be dry, intact, and completely healed. X-rays
revealed her right shoulder fracture was healing and her left femur was
in proper alignment with her rod in place.
Observations: 1 Month
At this point Nathalie was participating in aqua therapy and had full
range of motion in her shoulder and hip with no pain. X-rays revealed
her femoral fracture was healed. I advised her to begin walking.
Percutaneous Internal Fixation Of Left Femoral Neck
Fracture Utilizing A Smith & Nephew 6.5 Cannulated Hip
Pin As Well As An AO 4.5 Cannulated Screw
Nathalie sustained a subcapital left femoral
neck fracture. Her left femur already had IM
and Rush rods in place as a result of previous
femoral fractures caused by her osteogenesis
In situ (normal position) fixation was
determined to be the best treatment option.
This was achieved by placing a 6.5mm
cannulated hip pin from the posterior of the
guidewire to the rod and a 4.5mm screw
anterior to the rod. These crossed the physis
and held the fracture in place. As the previous
fracture was healed, we replaced the old
hardware and good positioning was achieved.
Fixation of left femoral neck fracture
with hip pins and screws.
X-rays revealed that Nathalie’s left femoral
neck fracture was healed and had good
coverage. She was using a 1cm left shoe
lift for her mild lower limb discrepancy and
had a normal range of motion throughout
X-ray showing femur, hip, and hardware
in proper position and a mild limb length
discrepancy seven months after
Observations: 7 Months
Nathalie has continued to do very well overall.
She has experienced a few more fractures
over the years as a result of her osteogenesis
imperfecta but her parents have been very
diligent about immediately seeking treatment
for any falls or other injuries that cause pain.
She continues to wear her shoe lift and
receives ongoing physical therapy.
This case demonstrates the challenges of
osteogenesis imperfecta and the need for
appropriate intervention. Fractures are to be
expected during childhood but long-term
effects can be avoided with immediate
An x-ray of Nathalie’s lower limbs at age
David S. Feldman, MD
Pediatric Orthopedic Surgeon