Devano The Brittle Bones

Devano, 4 years old boy not like the normal boys. At the age
Devano has suffered a broken right femur 10 times, left thigh six
times, so that almost every month Devano to the hospital to get help.
The history obtained from his mother since birth Devano have had
fractures. Devano was born by sectiocaesaria with 2,1 kg weight.
During pregnancy, his mother always control regularly to family
doctor. From ultrasound performed on the fetus looks poor bone
mineralization and found blue sclera from mothers eyes. The doctor
recommends to perform labor by obstetricians.
At birth Devano suffered a broken femur so he gets consultation
from orthopedist. After installing a cast to immobilize, the patient was
treated at the pediatrician. The function of other organs are still in
the normal state.
Currently Devano was able to walk without assistance, but with
dwarf stature like Achondroplasia . He was getting regular therapy
biphosponate, calcium, and others. It is quite encouraging, Devano
grow into a child who was always cheerful and good development of
his intelligence.

Terminology
1.
2.
3.
4.
5.

Poor mineralization
Blue sclera
Achondroplasia
Biphosponate therapy
Gips

1. Poor mineralization
A condition where the boness
mineral is decreased
2. Blue sclera
A condition where the sclera color
become blue because of due to
tissue depletion
3. Achondroplasia
Disruption of cartilage into bone
formation especially in the long
bones

4. Biphosponate therapy
A therapy to prevent loss of bone
mass
5. Gips
A rigid external immobilization tool
that printed as contour

Problem Identification
1. Why Devano 4 years old boy suffered the
broken right femur ten times, left femur six
times and why does it always happened?
2. How is the relationship between
sectiocaesaria labor and born weight 2.1
kg with Devanos condition right now?
3. Why does it always happen to down
extremity ?
4. What is the therapy given every month
Devano visit the hospital?

5. How is the relationship between sex and

age with Devanos condition right now?
6. How is the poor mineralization could
happened and what is the relationship with
his mothers eyes?
7. Why the doctor suggest his mother to do
the labor with obstetrician?
8. What is the relationship between Devanos
condition with another organ failure ?
9. How is the short stature like
achondroplasia could happened to Devano?

10. Why biphosponate therapy is given to

Devano and is there another therapy that
could give to Devano?
11. When the broken femur happened? During
pregnancy or during the labor?
12. What is the indication of installing a cast?
13. Is there any effect to intelligent by
Devanos condition?
14. If Devanos diagnose really achondroplasia,
is there any difference with a nonachondroplasia patient?
15. Is Devanos condition is a congenital
disease or not?

Problem Analyze
1. There are 3 things that could affect the bones mass :
-. Physical activity
-. Genetic defect
-. Body weight
If the bone disorder happened since baby it could be a genetic
defect. Some kind of genetic defect of musculoskeletal is
Osteogenesis Imperfecta which the symptom is the bone so
easy to be broken since he/she was born. It happened due to
pro-colagent defect since embryogenesis.
2. The born weight just 2.1 kg it means below normal (2.5 kg),
it happened due to the decreasing of bone mass and mothers
nutrition during pregnancy.
Sectiocaesaria labor to prevent the trauma that could
happened by pervaginam labor

3. Osteogenesis Imperfecta happened due

to decreasing mineralization especially on
long bones (Humerus and Femur) and it
happens between 4 years old age which
the children in an active period (stands
and running) so that the down extremity
easy to be broken due to trauma.
4. The therapy that could be given during
Devanos monthly visits is biphosponate,
calcium, and others.
5. Actually there are no relationship with
age and sex.

6. The poor mineralization happened due to

decreasing of pro-colagent 1 production so it
cause mineralization process.
Blue sclera from his mothers eyes is a
symptom from Osteogenesis Imperfecta
type 1, it means this disease is genetically.
7. To give her mother a better way to give a
labor and to prevent trauma that could
happened by pervaginam labor.
8. Usually this disorder just cause the
extremity, but if it become severe the
probability cause to another organ is
possible.

9. Mineralization disturbances usually

will result in stunted growth, so
people tend to be in short statue.
10. Bisphosphonate therapy given to
reduce resorption by osteoclasts.
Another therapy that could be given
to Devano such as Calcium and
Vitamin D
11. The abnormalities may already be
known, it is reflected from the
ultrasound that have been done
during pregnancy .

12. Indications to casts installation :

- Deformity
- Bones instability
- Fracture
13. Development of intelligence would be disrupted
if the abnormality affect the brains tissue
14. In Osteogenesis Imperfecta case : the bone is
easy to be broken
In achondroplasia case : the bone is not easy to
be broken as Osteogenesis Imperfecta.
So in Devanos condition that has history of
broken femur many times it could be an
Osteogenesis Imperfecta
15. Yes it is a congenital disease

PreColagent
deficiency

Scheme
Gen
mutation
Muskuloscelet
al congenital
disease

Poor
mineralizat
ion

Osteoclast
inhibits

Short
stature
Osteogene
sis
Imperfecta

Achondropla
sia

Fracture

Biphospona
te therapy

Casts

Learning objectives
Students able to explains :
1. Embryology of musculoskeletal
system
2. Classification of congenital disorder
of musculoskeletal system
3. Epidemiology of congenital disorder
of musculoskeletal system
4. Etiology and risk factors of
congenital disorder of
musculoskeletal system

5. Patophysiology and patogenesys of

congenital disorder of
musculoskeletal system
6. Signs and symptom of congenital
disorder of musculoskeletal system
7. Diagnose of congenital disorder of
musculoskeletal system
8. Supportive examination of
congenital disorder of
musculoskeletal system
9. Therapy of congenital disorder of
musculoskeletal system

10. Prognosis and complications of

congenital disorder of
musculoskeletal system
11. Referred case of congenital
disorder of musculoskeletal system