SGD B07

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Rebecca Mutia Agustina Silaen

Dessy Natasya Ade Putri
I Gusti A Ayu Diah Pradnya
Jessica Raphaela Pranata
William Abraham
Suyasa Adryan Yunanda

Collagen is an abundant structural protein in

all animals. The tropocollagen or collagen
molecule is a subunit of larger collagen
aggregates such as fibrils

1. EDS ( Ehlers-Dalnos Syndrome )

2. OI (Osteogenesis imperfect)
3. Stickler syndrome
4. Alport Syndrome
5. EB (Epidermolysis bullosa)
etc

Osteogenesis imperfecta (OI) is a

heterogeneous group of heritable
disorders
affecting
bone
and
connective tissue.
It is most notably characterized by
bone fragility, decreased bone mass
and recurrent fractures that can lead to
skeletal deformities.

Osteogenesis imperfecta (OI) or Brittle Bone

disease is a genetic disorder of the
connective tissue matrix which is majorly
caused by the mutations in either COL1A1 or
COL1A2, which encode the chains of type I
collagen.

In most cases where the affected genes

to encode protein have been identified,
there has been found a malfunction
linked to the maturation and
processing of the collagen.

Sillence and Rimoin formulated a clinical

classification,

OI type I
Characterized by blue sclerae and normal stature
although affected individuals are often shorter than
predicted by parental height

OI type II
Characteristic of OI type II are evident
on prenatal ultrasound and at birth.
Weight and length are small for
gestational age. The sclerae are
typically dark blue and connective
tissue is extremely fragile.

OI type III
Fractures in the newborn period, simply
with handling of the infant, are
common.
Growth velocity is slow and adult height
is characterized by marked short
stature, with some individuals achieving
final adult height of less than 1 m.

OI type III

OI type IV
Adult-onset hearing loss, and normal-togray sclerae.
OI type V
The distinguishing clinical features of OI
type V include the common occurrence
of radial head dislocation/subluxation
and calcification of the interosseous
membrane between the radius and ulna

OI type VI
A moderate to severe phenotype
associated with frequent fractures but
is clinically indistinguishable from type
IV OI. The hallmark is abnormal bone
mineralization on histological
examination

OI type VII-VIII
Infants tend to have congenital
fractures and significant
undermineralization of their bones.
Abnormal, popcorn, epiphyses have
been described and speculated to
result from abnormal hydroxylation of
type I collagen in cartilage.

Physicians may find evidence of

skeletal deformities accompanied by
multiple past fractures that have
healed using x-rays or bone scans.

Other ways to help confirm the diagnosis

of OI include a history of osteogenesis
imperfecta in the family, a skin biopsy,
DNA testing, is accomplished by means
of a blood test that is examined to locate
the genetic mutation.
Ultrasound imaging can be used to
help diagnose OI before the child is born.

Since OI is a genetic disease, the

differential diagnosis is mostly determined
by the age and the severity level
However, it may lead to few considerations
such as hypophosphatasia,
thanatophoric dysplasia, campomelic
dysplasia, and achondrogenesis for all
of them also show symptoms of
shortening of the limbs

1. Orthopaedic Management
Aims to control the fracture and deformity
correction toward normal function
2. Cell Therapy
Bone marrow transplantation, modifying
the stem cells mesenchemal, Aims to
prevent mutant alleles that cause this
disease in addition to the continuous
expression

3. Medical
Calcium supplements, fluoride, or
calcitonin.
Treatment with bisphosphonates is the
most common thing to do
4. Exercise
Patients are taught techniques standing,
sitting, and lying down to protect the
vertebrae

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Hearing Loss
Spinal Deformity
Respiratory Problem
Cardiac Anomalies
Airway Management

Respiratory failure is the most

frequent cause of death for people with
OI, followed by a traumatic accident.
Although living with OI in the body,
with many fractures, limited physical
activity, and short stature, most adults
and children with OI life managed to
have a productive and successful life.