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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
"limited number"
symptom
22q11.2 deletion syndrome
achondroplasia
cholangiocarcinoma
congenital diaphragmatic hernia
dedifferentiated liposarcoma
dentinogenesis imperfecta
epidermolysis bullosa simplex
erythropoietic protoporphyria
liposarcoma
neonatal adrenoleukodystrophy
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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