OSTEOGENESIS

IMPERFECTA
Presenter – Dr.Adithya (PG)
Moderator – Dr.Sindhura (MS ORTHO)
• Osteogenesis imperfecta (OI) are a
heterogeneous group of inherited disorders
in which the structure and function of type I
collagen is altered.
• The fragile bone is susceptible to frequent
fractures and progressive deformity.
• OI is identifiable in 1 in 20,000 total births,
with an overall prevalence of approximately
16 cases per million index patients.
• The wide spectrum of clinical severity—
from perinatal lethal forms to clinically
silent forms—rejects the tremendous
genotypic heterogeneity (more than 150
different mutations of the type I procollagen
genes COL1A1 and COL1A2 have been
described).
PATHOLOGY

• Alteration in structural integrity or reduction in total

amount of type 1 collagen

• Bone formation is initiated in the normal way but

progresses abnormally, fully formed tissue consisting of a
mixture of woven and lamellar bone and in worst cases
almost entirely of immature woven bone.
• Histologic findings reveal a
predominance of woven bone, an
absence of lamellar bone, and
thinning of the cortical bone with
osteopenia.
• From a practical viewpoint of
orthopedic care, patients with OI can
be divided into two groups. One group
of patients with severe disease who
develop long-bone deformity through
repetitive fractures often needing
surgical treatment, and another group
of patients with mild disease with
frequent fractures, but most injuries
responding well to closed treatment.
CLINICAL FEATURES

• Propensity to fracture even with

minor trauma, often without pain and
swelling
• Fracture recur throughout childhood
• Callus formation is florid
(Hypercallus)
• New bone is abnormal, remains
'pliable" – Malunion
• By 6yrs - Deformities of long
bones, Vertebral compression
fractures - Kyphoscoliosis
a

• Pathologic fractures may present with

swelling of the extremity, pain, low-
grade fever and a radiograph showing
exuberant, hyperplastic, callus formation.
• The callus may occur without obvious
fracture and can have a distinct butterɻy
shape, as opposed to the usual fusiform
callus of most healing fractures.
• The femur is the most common site of
pathologic fractures.
• Muscle Fatigue

• Scoliosis (Curvature of the Spine)

• Curved Limbs

• Blue or Gray Tint in the Sclera

• May develop hearing loss later in

adulthood (Can be as early as 20s or 30s).
This is linked to deformities in the inner
ear and otosclerosis.
a

• Brittle and underdeveloped teeth.

(Dentinogenesis Imperfecta)

• Ol patients often bruise easily.

• Heart Defects

• Delays in motor development.

 DIAGNOSTIC MODALITY
• There is no specific laboratory diagnostic test,
although fibroblast cell culture can detect the
collagen abnormality in 85% of OI patients.

• It is crucial, but often difficult, to distinguish OI

from non accidental injury.

• Unexplained fractures in mild, undiagnosed OI

can drag a family through unnecessary legal
proceedings; conversely, a child with OI may be
abused but not exhibit classic fracture
patterns,owing to the fragility of their bones.
DIAGONISIS OF Ol

• Fractures occurring with little or no trauma

• Short stature or stature shorter than predicted

• Bone Deformity

• Blue Sclera

•Progressive, post-pubertal hearing loss

•Family History
 CODFISH
SABER SHIN
VERTEBRAE
MULTIPLE GROWTH ARREST LINES
PLATYSPONDYLY
a

• A 13-year-old boy with mild

osteogenesis imperfecta presented after
a fall on an outstretched arm, with
inability to move his elbow, pain, and
swelling.
• This fracture pattern is commonly seen
in children with osteogenesis
imperfecta and is quite uncommon in
healthy children.
• The patient underwent open reduction
and internal fixation.
• The fracture healed after 6 weeks.
CLASSIFICATION

• Based on well-differentiated pattern of inheritance

• Age of presentation

• Severity of changes in the bones & extra skeletal

tissues

• Helps in assessing prognosis and planning treatment

• SILLENCE(1981)- four clinical types of OI

Ol Type I (mild)

• The commonest variety; over 50% of all cases usually appear at

1-2yrs of age

• Healing is reasonably good & deformities not marked

• Sclera deep blue

• Teeth usually normal, some have dentinogenesis imperfecta

• Impaired hearing in adults

• Quality of life good; normal life expectancy

•Autosomal dominant inheritance

OI Type II (lethal)

•5-10% of cases

• Intra-uterine and neonatal

• Large skull and wormian bones

• Grey Sclerae

• Rib fractures and respiratory difficulty

• Stillborn or survive for only few weeks

•Most due to new dominant mutations; some

autosomal recessive
OI Type III( severe)

•The 'classic', but not common form often present at birth

• Large skull, wormian bones; pinched-looking face

• Marked deformities and kyphoscoliosis by 6yrs

• Sclera grey, becoming white

• Dentinogenesis imperfecta

• Marked joint laxity

• Respiratory problems

• Poor quality of life; few survive to adulthood

• Sporadic, or autosomal recessive inheritance

OI Type IV

• Uncommon; less than 5% cases

• Frequent during early childhood

•Deformities common

• Sclera pale blue or normal

• Dentinogenesis imperfecta

• Survive to adulthood with fairly good function

•Autosomal dominant inheritance

TREATMENT

• Conservative Rx- preventing fractures ,

using light weight orthoses during
physical activity

• General measures to prevent recurrent

trauma, to maintain movement

• Encouraging social adaptation and

rehabilitation is very important
CASTS
• Normal casts would actually harm patients
with OI.
• Instead specialized casts are used due to the
brittle nature of the bones.
• Fiberglass offers a lighter and more
comfortable solution for Ol patients.
• The main purpose of casts is to immobilize the
broken limbs. However immobilization should
be limited in order to prevent bone loss.
•For less serious breaks, parents are also taught
to wrap bones for their children.
 SURGICAL INTERVENTIONS
• Load-sharing devices (such as intramedullary rods) are
used for internal fixation of long bone fractures or
osteotomies in children with OI. Plates and screws
should be avoided.
• Traditionally, multiple osteotomy and rodding
procedures (Sofield technique) involved extensive
incisions with significant soft-tissue stripping and blood
loss.
• Sijbrandij reported a percutaneous technique in which
the deformity is straightened by closed osteoclasis and
Rush pins are inserted along the proximal axis of the
long bones, partially transfixing them to stabilize them.
• Skeletally mature patients with very small
medullary canals are best treated with non
elongating rods, whereas skeletally immature
patients with adequate width of the
medullary canal are best treated with
extensible rods.

• Complications after osteotomies and

intramedullary fixation include fracture at
the rod tip, migration of the fixation device,
joint penetration, loosening of components of
extensible rods, and fractures through the
area of uncoupled rods.
Exercise and Physical Therapy

• Regular exercise helps the patients to become

stronger and more independent.

• Swimming and water exercise is the best way

for Ol patients to become more fit because it
causes less stress on bones than any other sport.
RED FLAGS

• Any child presenting with skin lesions and/or fractures

otherwise unexplained must be worked up for non-
accidental trauma. As mentioned above, just because a
diagnosis of osteogenesis imperfecta is made does not
mean child abuse is not present

• Myelopathy or other motor/sensory changes, ataxia,

decreased mental status, or apnea suggest possible
Basilar invagination.

• Easy fatigability, shortness of breath and murmurs must

prompt an evaluation Heart Defects.

• The risk of malignant hyperthermia is increased in

patients with osteogenesis imperfecta.
THANKYOU!