Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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The anesthetic management of a patient with Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
a
rare
genetic
disorder
caused
by
autosomal
recessive
inheritance
and
is
characterized
by
the
following
features
:
mental
retardation
,
infantile
hypotonia
,
micrognathia
,
narrow
and
high-arched
palate
,
microcephaly
,
prominent
upper
central
incisors
,
poor
dentition
,
short
stature
,
and
truncal
obesity
.
Some
patients
have
strabismus
,
myopia
,
optic
atrophy
,
and
total
blindness
.
A
small
number
of
cases
present
with
heart
defects
or
mitral
valve
prolapse
.
Only
approximately
100
cases
have
been
reported
in
the
world
literature
.
The
administration
of
general
anesthesia
in
patients
with
Cohen
syndrome
can
be
a
challenge
because
most
of
these
patients
are
mentally
retarded
and
uncooperative
and
have
facial
malformations
that
may
make
intubation
difficult
.
We
present
our
experience
with
the
anesthetic
management
of
a
patient
with
Cohen
syndrome
.
Diseases
Validation
Diseases presenting
"short stature"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
cowden syndrome
dentin dysplasia
dentinogenesis imperfecta
fabry disease
hirschsprung disease
holt-oram syndrome
kabuki syndrome
kallmann syndrome
kindler syndrome
monosomy 21
oculocutaneous albinism
oligodontia
omenn syndrome
proteus syndrome
werner syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated