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Small is challenging; distal femur fracture management in an elderly lady with achondroplastic dwarfism.
[achondroplasia]
Achondroplasia
is
an
autosomal
dominant
dwarfing
condition
that
represents
the
most
common
form
of
skeletal
dysplasia
.
The
disease
is
caused
by
a
mutation
in
the
gene
encoding
fibroblast
growth
factor
receptor
3
(
FGFR
3
)
found
at
the
p
16
.
3
locus
on
chromosome
4
which
results
in
severe
inhibition
of
subchondral
bone
growth
.
Anatomic
variations
,
including
articular
and
periarticular
deformities
classically
seen
with
this
condition
,
amplify
the
complexity
of
fracture
fixation
.
Blood
volume
loss
,
age-related
bone
fragility
,
component
selection
and
positioning
pose
serious
orthopaedic
challenges
.
Concomitant
cardiovascular
,
respiratory
and
neurological
comorbidities
pose
additional
high
-risk
perioperative
considerations
.
Despite
an
estimated
prevalence
of
1
:
25
000
in
the
general
population
,
there
is
little
literature
concerning
the
operative
and
postoperative
treatment
challenges
faced
by
orthopaedic
surgeons
dealing
with
fracture
management
on
a
patient
with
this
condition
.
We
present
a
case
of
an
intercondylar
femoral
fracture
in
an
elderly
achondroplastic
lady
successfully
treated
with
percutaneous
screw
fixation
.
Diseases
Validation
Diseases presenting
"growth factor receptor"
symptom
achondroplasia
aromatase deficiency
cholangiocarcinoma
dedifferentiated liposarcoma
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
kallmann syndrome
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
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