Rare Diseases Symptoms Automatic Extraction
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[Anesthetic management for caesarean delivery in a parturient with achondroplasia].
[achondroplasia]
A
27
-
year
-old
parturient
(
height
,
130
cm
;
weight
,
43
kg
)
with
achondroplasia
,
which
is
characterized
by
rhizomeric
short
stature
,
large
head
and
frontal
bossing
,
was
scheduled
for
elective
caesarean
section
(
C
/
S
)
because
of
her
contracted
pelvis
.
Her
first
delivery
had
been
performed
by
C
/
S
under
general
anesthesia
at
a
regional
hospital
6
years
before
.
Preoperative
airway
assessment
showed
normal
mouth
opening
and
mobile
cervical
spine
.
Since
she
had
anxiety
about
needle
puncture
and
refused
neuraxial
blockade
and
since
we
considered
the
trachea
could
be
intubated
,
we
decided
to
perform
C
/
S
under
general
anesthesia
at
37
weeks
of
gestation
.
The
patient
and
baby
had
an
uneventful
perioperative
course
.
Underdevelopment
of
bone
formation
results
in
characteristic
craniofacial
and
vertebral
abnormalities
in
patients
with
achondroplasia
.
Anesthetic
management
of
achondroplastic
parturients
should
be
specified
to
individual
basis
based
on
careful
preoperative
assessment
of
craniofacial
and
vertebral
deformities
.
Diseases
Validation
Diseases presenting
"anxiety"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenal incidentaloma
adrenomyeloneuropathy
cadasil
child syndrome
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
junctional epidermolysis bullosa
locked-in syndrome
monosomy 21
oligodontia
oral submucous fibrosis
phenylketonuria
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated