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Pediatric aspects of skeletal dysplasia.
[achondroplasia]
Skeletal
dysplasia
is
a
disorder
of
skeletal
development
characterized
by
abnormality
in
shape
,
length
,
a
number
and
mineral
density
of
the
bone
.
Skeletal
dysplasia
is
often
associated
with
manifestation
of
other
organs
such
as
lung
,
brain
and
sensory
systems
.
Skeletal
dysplasias
or
dysostosis
are
classified
with
more
than
400
different
names
.
Enchondral
bone
formation
is
a
coordinated
event
of
chondrocyte
proliferation
,
differentiation
and
exchange
of
terminally
maturated
chondrocyte
with
bone
.
Impaired
enchondral
bone
formation
will
lead
to
skeletal
dysplasia
,
especially
associated
with
short
long
bones
.
Appropriate
bone
volume
and
mineral
density
are
achieved
by
balance
of
bone
formation
and
bone
resorption
and
mineralization
.
The
gene
encoding
fibroblast
growth
factor
receptor
3
is
responsible
for
achondroplasia
,
representative
skeletal
dysplasia
with
short
stature
.
The
treatment
with
growth
hormone
is
approved
for
achondroplasia
in
Japan
.
Osteogenesis
imperfecta
is
characterized
by
low
bone
mineral
density
and
fragile
bone
.
Data
on
the
beneficial
effect
of
bisphosphonate
for
osteogenesis
imperfecta
are
accumulating
.
Osteopetrosis
has
high
bone
mineral
density
,
but
sometimes
show
bone
fragility
.
In
Japan
as
well
as
other
countries
,
pediatrician
treat
larger
numbers
of
patients
with
skeletal
dysplasia
with
short
stature
and
fragile
bones
compared
to
20
years
ago
.
Diseases
Validation
Diseases presenting
"mineral density are achieved by balance of bone formation and bone resorption and mineralization"
symptom
achondroplasia
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