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Respiratory difficulties and breathing disorders in achondroplasia.
[achondroplasia]
Respiratory
difficulties
and
breathing
disorders
in
achondroplasia
are
thought
to
underlie
the
increased
risk
for
sudden
infant
death
and
neuropsychological
deficits
seen
in
this
condition
.
This
review
evaluates
literature
regarding
respiratory
dysfunctions
and
their
sequelae
in
patients
with
achondroplasia
.
The
limited
number
of
prospective
studies
of
respiratory
disease
in
achondroplasia
means
that
observational
studies
and
case
series
provide
a
large
proportion
of
the
data
regarding
the
spectrum
of
respiratory
diseases
in
achondroplasia
and
their
treatments
.
Amongst
clinical
respiratory
problems
described
,
snoring
is
the
commonest
observed
abnormality
,
but
the
reported
incidence
of
obstructive
sleep
apnoea
(
OSA
)
shows
wide
variance
(
10
%
to
75
%
)
.
Reported
treatments
of
OSA
include
adenotonsillectomy
,
the
use
of
CPAP
,
and
surgical
improvement
of
the
airway
,
including
mid-face
advancement
.
Otolaryngologic
manifestations
are
also
common
.
Respiratory
failure
due
to
small
thoracic
volumes
is
reported
,
but
uncommon
.
Mortality
rate
at
all
ages
was
2
.
27
(
CI
:
1
.
7
-
3
.
0
)
with
age-
specific
mortality
increased
at
all
ages
.
Sudden
death
was
most
common
in
infants
and
children
.
Cardiovascular
events
are
the
main
cause
of
mortality
in
adults
.
Despite
earlier
recognition
and
treatment
of
respiratory
complications
of
achondroplasia
,
increased
mortality
rates
and
other
complications
remain
high
.
Future
and
ongoing
evaluation
of
the
prevalence
and
impact
of
respiratory
disorders
,
particularly
OSA
,
in
achondroplasia
is
recommended
.
Diseases
Validation
Diseases presenting
"respiratory difficulties"
symptom
achondroplasia
This symptom has already been validated
