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Artigo Osteogênese Imperfeita
Artigo Osteogênese Imperfeita
A Pediatric Orthopedic
Perspective
Jeanne M. Franzone, MDa,*, Suken A. Shah, MDa,
Maegen J. Wallace, MDb, Richard W. Kruse, DO, MBAa
KEYWORDS
Osteogenesis imperfecta Brittle bones Extremity deformity Spine deformity
KEY POINTS
Osteogenesis imperfecta (OI) is a genetic connective tissue disorder characterized by low bone
density, fractures, spine and extremity deformity, and several nonorthopedic manifestations.
Medical management includes nutrition, adequate vitamin D and calcium intake, and activity and
may include the use of bisphosphonates or other anabolic agents.
Care should be managed by a cohesive multidisciplinary team.
The orthopedic care of patients with OI includes fracture care and management of spine and
extremity deformity with a goal of maximizing each individual’s developmental and functional
capacity.
a
Department of Orthopaedic Surgery, Nemours Alfred I. duPont Hospital for Children, 1600 Rockland Road,
Wilmington, DE 19803, USA; b Department of Orthopaedic Surgery, University of Nebraska Medical Center, Chil-
dren’s Hospital and Medical Center, 8200 Dodge Street, Omaha, NE 68114, USA
* Corresponding author.
E-mail address: Jeanne.Franzone@nemours.org
Table 1
Genetic classification of OI
Clinical
Gene Mutation Protein Encoded OI Type Inheritance Characteristics
COL1A1 or Collagen a1 or a1 I, II, III, AD Classic phenotypes as
COL1A2 or IV described by
Sillence
classification
IFITM5 Bone-restricted V AD Characterized by
IFITM-like (BRIL), intraosseous
also known as membrane
interferon-induced calcification and
transmembrane radial head
protein 5 (IFITM5) dislocation
SERPINF1 Pigment epithelium- VI AR Moderate to severe
derived factor skeletal deformity
(PEDF)
CRTAP Cartilage-associated VII AR White sclerae;
protein (CRTAP) typically severe
phenotype
P3H1 (also Prolyl-3-hydroxylase VIII AR Severe phenotype
known (P3H1)
as LEPRE1)
PPIB Peptidyl-prolyl cis- IX AR Severe deformity;
trans isomerase B gray sclerae
SERPINH1 Serpin H1 X AR Severe skeletal
deformity; gray
sclerae;
dentinogenesis
imperfecta
FKBP10 FKBP65 XI AR Bruck syndrome
PLOD2 Lysyl hydroxylase 2 N/A AR Bruck syndrome
(LH2)
BMP1 Bone morphogenic XII AR Mild to moderate
protein 1 skeletal deformity
SP7 Transcription factor XIII AR Severe deformity;
SP7 (osterix) facial hypoplasia
TMEM38B Trimeric intracellular XIV AR Severe bone
cation channel type deformity
B (TRIC-B)
WNT1 Proto-oncogene XV AR, AD Severe deformity;
Wnt-1 white sclerae
CREB3L1 OASIS XVI AR Severe bone
deformity
SPARC SPARC (osteonectin) XVII AR Progressive severe
bone fragility
MBTPS2 Membrane-bound XVIII X-linked Moderate to severe
transcription factor recessive skeletal deformity,
site-2 protease scoliosis, pectoral
deformity
Abbreviations: AD, autosomal dominant; AR, autosomal recessive.
Adapted from Marini JC, Forlino A, Bächinger HP, et al. Osteogenesis imperfecta. Nat Rev Dis Primers 2017;3:17052;
with permission.
196 Franzone et al
Fig. 1. Lower extremity realignment and rodding. (A, C) Anteroposterior (AP) and (B, D) lateral radiographs of the
femurs of a 16-month-old boy with OI and severe femoral deformity interfering with motor development. (E–H)
Postoperative AP and lateral radiographs following realignment and intramedullary rodding of the bilateral femurs.
(I) Standing AP view of the lower extremities at 7 years of age demonstrates the telescopic expansion of the bilat-
eral femoral Fassier-Duval rods with growth and interval nontelescopic realignment and intramedullary rodding of
the bilateral tibias.
359 primary nonelongating rodding procedures as the Fassier-Duval rod, is to reduce the num-
of femurs and tibiae in children with OI with a ber of revisions required because of growth.
mean follow-up of 63 months (24–118 months) Telescopic rods are, however, also notable for
found a reoperation rate of 39.4%.29 Rod migra- a similar revision and complication rate.27 In their
tion was the most common complication with a recent report on follow-up of mid-term results of
rate of 25.7%. The aim of telescopic rods, such femoral and tibial osteotomies and Fassier-Duval
198 Franzone et al
nailing in children with OI, Azzam and col- adjunct to fixation in the setting of nonunion re-
leagues30 reported on 58 patients with 179 pairs or revisions notable for bone loss.37,38
Fassier-Duval rods placed with a revision rate In patients with malalignment of the lower ex-
of 53% at a mean time of 52 months after initial tremities without significant bowing of the long
rodding surgery. The bending of Fassier-Duval bones, guided growth techniques may serve a
rods, not always at the male-female junction, role to improve alignment during the growing
has been described.31 Another surgical difficulty years. As more centers are using these strate-
is stress shielding.32 Too large a rod causes gies, data on the effectiveness and complication
stress shielding of the long bone, whereas too rates will likely be soon to follow.
small a rod may bend and break (Fig. 2). Upper extremity surgery in OI is performed to
Choosing intramedullary rod size is therefore address functional limitations and has been
somewhat controversial. shown to lead to functional improvements. In
Nonunion and delayed union, particularly in two recent series, Ashby and colleagues39,40
the tibia, are challenges in the OI popula- recently reported on the functional improve-
tion.30,33 The use of supplemental plate and ments in their patients with OI who have under-
screw fixation has been described to enhance gone humeral and forearm rodding. Particularly
rotational stability and serve as a tool to treat in a population often reliant on wheelchairs for
nonunions.34–36 Some authors recommend mobility and upper extremity function for activ-
routine removal of supplemental plates.35 The ities of daily living, transfers, and self-care, the
long-term fate of these supplemental plates role of upper extremity function is important.
and screws is yet to be reported. Supplemental Furthermore, as the importance of activity is
allogenic bone grafting may be used as an emphasized for patients with OI of all severities,
wheelchair sports highlight the importance of rotator cuff or other pathology is not yet known
upper extremity function. Grossman and col- and under investigation. In the elbow, radial
leagues41 report a single-center experience head dislocation and subluxation is commonly
treating humeral deformity and fractures in chil- noted and is more common in OI type V.46 Dislo-
dren with OI using the Fassier-Duval system with cation of the radial head may be related to
a mean follow-up time of 43 months with bowing in the forearm, although not all patients
approximately one-third requiring revision. Hu- with severe forearm deformity develop a radial
meral rodding has been described with ante- head dislocation (Fig. 4).
grade and retrograde techniques.41,42
SPINAL DEFORMITY IN OSTEOGENESIS
Additional Extremity Considerations IMPERFECTA
In addition to deformity of the long bone seg- Spinal manifestations include scoliosis; kyphosis;
ments, patients with severe OI may develop craniocervical junction (CVJ) abnormalities, such
deformity of the joints. Acetabular protrusio, as basilar impression, basilar invagination, and
protrusion of the femoral head into the pelvis platybasia; and lumbosacral pathology, such as
with envelopment of the femoral head by the ac- spondylolisthesis.47 Bisphosphonate therapy
etabulum, has been described and associated has been found to have a positive impact on
with coxa vara and femoral neck fractures vertebral morphology, including remodeling of
(Fig. 3).43–45 Impingement of the acetabulum deformed vertebrae in older children and pres-
on the femoral neck may also cause hip pain ervation of vertebral shape when started early
with abduction. Preventative measures and in life.48,49
effective surgical interventions for this often-
dramatic phenomenon are unfortunately lacking Scoliosis
at this time. The presence of acetabular protru- The prevalence of scoliosis in patients with OI
sio must also be considered in the adult patient ranges from 39% to 80%, depending on the
with OI with symptomatic degenerative joint dis- study.47 Scoliosis is rarely observed in patients
ease of the hip considering arthroplasty. A younger than 6 years and can progress rapidly
similar finding takes place in the shoulder such after it is diagnosed.50 Single thoracic curves
that the humeral head becomes enveloped are the most frequent type of scoliosis curve
within the overlying acromion process with an found in patients with type I OI: 97% of curves
associated deformity of the distal third of the in patients with type I OI who have scoliosis
clavicle and may be considered as shoulder pro- are single thoracic curves, whereas in patients
trusio (see Fig. 3). The effect of this phenome- with type III OI, 58% of curves are in the thoracic
non on shoulder range of motion or potential region.51
Fig. 3. Acetabular and shoulder protrusio. (A) A 12-year-old boy with severe OI with bilateral acetabular protrusio.
(B) A 17-year-old boy with severe OI with left shoulder protrusion characterized by envelopment of the humeral
head in the acromion process.
200 Franzone et al
Fig. 4. Radial head dislocation. (A) Lateral radiograph of the right elbow and (B) a clinical photograph of the right
elbow of a 17-year-old boy with a right radial head dislocation.
bisphosphonate treatment after age 6 years because contemporary techniques make correc-
(2.3 per year vs 6 per year). Bisphosphonate tion of larger curves at a later stage more
treatment started after age 6 years or in patients feasible. Although historical methods of fusion
with type I or IV OI did not have a statistically have not been found to improve lung volumes,
significant effect on the progression of scoliosis. contemporary techniques may improve results,
Widmann and colleagues47 evaluated pa- and fusion can prevent progressive respiratory
tients with OI and found that increasing severity decline resulting from thoracic insufficiency
of scoliosis correlated with a decrease in pulmo- syndrome.47
nary function, specifically the vital capacity, lead- Previous methods of treatment, including
ing to restrictive lung disease. Vital capacity was noninstrumented fusion, Harrington rods, and
78% predicted when thoracic scoliosis was less Luque instrumentation, have shown modest or
than 40 and dropped to 41% predicted when no correction of curves, little improvement in
thoracic scoliosis was greater than 60 . The au- physical function, and up to 50% complication
thors did not find a correlation between pulmo- rates.50,53,55,57–59 Recent evaluation of contem-
nary function and kyphosis or chest wall porary instrumentation and correction tech-
deformity. niques, such as the use of pedicle screws with
Treatment of scoliosis in patients with OI is cement augmentation, has shown improved
difficult mostly because of poor bone quality outcomes. Yilmaz and colleagues60 reviewed a
and the rigidity of the deformity. Brace treat- series of 10 patients with OI who underwent
ment has not been found to be effective and is posterior spinal fusion for the treatment of
difficult to use because of the fragility of the scoliosis. All of the patients underwent
rib cage. In some patients, a soft thoracolumbo- preoperative pamidronate therapy. Seven pa-
sacral orthosis is used for supported sitting to tients had cement-augmented pedicle screw
assist with functional activities, but no assurance instrumentation at the proximal and distal foun-
should be given with regard to curve dations (Fig. 6). These authors were the first to
progression. report the difficulty of exposure of the thoracic
Surgical spinal fusion to halt curve progres- spine because of rib overgrowth and thoracic
sion is considered when curves reach 45 , but lordosis (Fig. 7). Rib and posterior Ponte osteot-
the patient’s age and truncal height need to omies at the apex of the thoracic curve were
be taken into account to avoid thoracic insuffi- used to aid in adequate exposure and to in-
ciency syndrome. One report indicated that chil- crease flexibility of the curve in the coronal and
dren with severe OI may benefit from fusion sagittal planes to allow correction. Cement
when curves are 35 ,56 but it is preferable to augmentation of the proximal and distal screws
avoid fusion in young children when possible was used to increase pullout strength of fixation
Fig. 6. (A) Posteroanterior (PA) and (B) lateral radiographs demonstrating severe osteogenesis imperfecta in a
16-year-old boy with an 87 thoracic curve, a 115 thoracolumbar curve, and substantial pelvic obliquity. (C) PA
and (D) lateral radiographs obtained 2.5 years postoperatively demonstrate spinal fusion from T1 to the sacrum
with cement-augmented pedicle screws and pelvic fixation.
202 Franzone et al
structures above the caudal border of the skull. followed by posterior occipitocervical fusion.
Platybasia is flattening of the cranial base.61,62 These patients were treated with in situ occipito-
A recent study demonstrated skull base abnor- cervical fusion with autogenous rib strut grafting
malities in all four types of OI with 26% of pa- with sublaminar cables or contoured loop instru-
tients having at least one abnormality; 16% had mentation. Postoperatively, all patients used
platybasia, 6% had basilar impression, and 4% either a halo vest or modified Minerva braces until
had basilar invagination. Increased clinical solid union was observed. Contemporary rigid
severity of OI was the strongest predictor of occipitocervical instrumentation was not used in
skull base anomalies. This retrospective review this series. Although successful fusion occurred
demonstrated that treatment within the first at an average of 8.2 months postoperatively, pro-
year of life with bisphosphonates did not gression of the basilar invagination was observed
decrease the prevalence of skull base abnormal- in 80% of the patients. Of the 20 patients with pro-
ities later in life.63 gression, six patients were symptomatic; these
Basilar impression results in characteristic fea- patients were treated with prolonged external
tures of the skull. These features include over- bracing with improvement over time.
hang of the temporal and occipital bones,
termed the “Tam-o’-Shanter” or “Darth Vader” Authors’ preferred treatment strategy
skull.64 Clinical presentation of CVJ problems Our indication for surgical treatment of CVJ
can range from no symptoms to brainstem abnormalities is generally reserved for basilar
compression, restriction of cerebrospinal fluid invagination with clinical symptoms, most
circulation resulting in hydrocephalus, and commonly including headaches, cranial nerve
impingement of cranial nerves.65 Baseline lateral palsy, dysphagia, and myelopathy noted by
skull/cervical spine radiographs are recommen- hyperreflexia, quadriparesis, or gait abnormality.
ded in all patients with OI before they reach Hydrocephalus in patients with basilar invagina-
age 6 years. Basilar impression may be clearly tion is dangerous and must be treated before
visible on a lateral radiograph with upward any other intervention is performed. The natural
migration of the cervical spine into the base of history of basilar invagination can include pro-
the skull. In more subtle cases, the diagnosis of gressive deformity and neurologic dysfunction,
basilar invagination is made when the odontoid creating the controversy of whether prophylactic
process protrudes above the Chamberlain, treatment is indicated in asymptomatic patients
McRae, and McGregor lines on the lateral radio- with basilar invagination evident on imaging.
graph (Figs. 8A, B).64 Drawing the recommen- We take a conservative stance and prefer to
ded lines on plain radiographs is challenging monitor patients who are asymptomatic for
because of the deformity and overlapping development of neurologic symptoms, which
bony detail. If craniocervical abnormalities are can be subtle and can progress slowly. We do
a substantial concern, MRI is recommended not think that the literature provides convincing
(Fig. 8C). evidence that the use of a cervical brace prevents
Treatment of symptomatic CVJ problems in- progression of basilar invagination or prevents
cludes craniocervical fusion with or without trac- symptomatic basilar invagination from occurring.
tion (Fig. 9). Sawin and Menezes66 reported on No definitive evidence in the literature has
25 patients with basilar invagination, 18 of proven that delayed sitting decreases the risk of
whom had OI. Of the 25 patients, 56% were be- basilar invagination and delaying independent
tween ages 11 and 15 years, and 44% also had upright posture is nearly impossible in most pa-
symptoms of hydrocephalus. Patients with asymp- tients with OI because many of these children
tomatic basilar invagination were treated with are motivated to sit, crawl, scoot, or stand at or
external orthotic immobilization. Symptomatic near normal developmental milestones.
patients with hydrocephalus underwent ventricu-
loperitoneal shunt placement before treatment Lumbosacral Pathology
of basilar invagination. The treatment of the CVJ Spondylolysis and spondylolisthesis have been
abnormality depended on whether the basilar found in patients with OI almost exclusively at
invagination was successfully reduced with preop- the L5 level. Incidence rates in the literature range
erative traction. The patients in whom reduction from 5.3% to 10.9%67,68 Hatz and colleagues68
occurred (40%) were treated with posterior evaluated lateral radiographs of 110 patients
decompression and occipitocervical fusion with with OI to characterize lumbar deformities and
or without instrumentation. The patients in spondylolysis/spondylolisthesis. They found an
whom reduction did not occur (60%) underwent 8.2% incidence of spondylolysis at an average
transoral or transnasal anterior decompression, age of 7.5 years, with all nine of those patients
204
Fig. 8. (A) Diagram depicting the Chamberlain line, which extends from the posterior nasal spine to the posterior
lip of the foramen magnum; the McRae line, which joins the anterior and posterior margins of the foramen mag-
num; and the McGregor line, which extends from the posterior nasal spine to the most caudal portion of the pos-
terior cranial base. (B) Lateral cervical spine radiograph demonstrating type III osteogenesis imperfecta in a
12-year-old girl. This image demonstrates the difficulty of drawing the McGregor, Chamberlain, and McRae lines.
The McRae line was difficult to draw because the anterior and posterior aspects of the foramen magnum were
difficult to visualize. (C) Sagittal T2-weighted MRI was obtained for further evaluation of the same patient. The
McGregor, Chamberlain, and McRae lines are drawn. Hydrocephalus and syrinx are present. ADI, atlantodens in-
terval; SAC, space available for spinal cord. ([A] From Wills BP, Dormans JP. Nontraumatic upper cervical spine
instability in children. J Am Acad Orthop Surg 2006;14(4):237; with permission.)
Osteogenesis Imperfecta 205
Fig. 9. (A) T2-weighted sagittal MRI demonstrating progressive basilar invagination in a 14-year-old boy with
osteogenesis imperfecta. The patient had headaches, neck pain, and decreased endurance but no overt symptoms
of myelopathy. (B) Postoperative lateral radiograph of the same patient demonstrates occiput to C2 fusion, which
was performed with intraoperative traction.
ambulatory. Spondylolisthesis occurred in 12 pa- patients with OI. Fractures can occur when pa-
tients (10.9%) at an average age of 6.4 years, tients are transferred to the surgical table, posi-
with 92% of those patients ambulatory. Eleven of tioned, during the procedure, and transferred
these 12 instances of spondylolisthesis occurred to the postoperative bed. In severely affected
at L5/S1, and one was at S1/S2. Nine were isthmic
spondylolisthesis, and three were dysplastic. The
grade was low in 10 patients and high in two pa-
tients. The authors did not find that one specific
type of OI had a higher incidence of spondylolis-
thesis than other types, although seven of the
nine patients with spondylolysis had type III OI.
The clinical relevance and natural history of
spondylolysis and spondylolisthesis in patients
with OI are not clear in the literature, and infor-
mation on surgical indications and techniques is
available only in sparse case reports. In our
experience, many patients with OI do not have
normal pelvic parameters and often have
increased lumbar lordosis, and an increase in
lumbar lordosis can even develop at the distal
end of a fusion construct (Figs. 10 and 11).
The practitioner also needs to be aware of hip
flexion contractures and the possibility of
acetabular protrusio.
ANESTHETIC AND INTRAOPERATIVE Fig. 10. Lateral lumbar spine radiograph demon-
CONSIDERATIONS strating osteogenesis imperfecta in a 20-year-old
woman who reported increasing low back pain. The pa-
The surgeon must be aware of several anes- tient has substantial lumbar lordosis, elongated pedi-
thetic and intraoperative considerations in cles, and a horizontal sacrum with sacral deformity.
206 Franzone et al
Fig. 11. (A) Lateral and (B) PA radiographs demonstrating increased lumbar lordosis in a 16-year-old girl with
osteogenesis imperfecta and scoliosis. (C) Postoperative lateral and (D) PA radiographs obtained 2 years after
fusion demonstrate distal lordosis at the end of the fusion construct.
patients, fractures can result from the use of 5. Sillence DO, Senn A, Danks DM. Genetic heteroge-
blood pressure cuffs and from tourniquets neity in osteogenesis imperfecta. J Med Genet
used for insertion of intravenous lines. Airway 1979. https://doi.org/10.1136/jmg.16.2.101.
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because these patients often have large heads, ally abnormal type I procollagen in a form of osteo-
large tongues, and short necks. They also have genesis imperfecta. Proc Natl Acad Sci U S A 1981.
poor pulmonary function as a result of chest https://doi.org/10.1073/pnas.78.8.5142.
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on age and size are not accurate in patients with tion in a collagen gene in a perinatal lethal form
OI because of their stature. Hyperthermia and of osteogenesis imperfecta. Nature 1983. https://
diaphoresis tend to occur in these patients. doi.org/10.1038/304078a0.
The use of succinylcholine should be avoided 8. Barnes AM, Chang W, Morello R, et al. Deficiency
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