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An achondroplasic case with foramen magnum stenosis, hydrocephaly, cortical atrophy, respiratory failure and sympathetic dysfunction.
[achondroplasia]
Achondroplasia
is
a
relatively
frequent
genetic
disorder
that
may
lead
to
limb
weakness
,
motor
-
mental
retardation
,
hydrocephaly
,
and
respiratory
disorders
.
In
this
pathology
,
foramen
magnum
stenosis
and
accompanying
disorders
like
respiratory
depression
is
well
documented
.
A
2
.
5
year
-old
child
with
the
diagnosis
of
achondroplasia
admitted
to
our
clinic
with
severe
respiratory
depression
,
limb
weakness
,
and
motor
mental
retardation
as
well
as
sympathetic
dysfunction
.
In
radiologic
evaluations
,
severe
foramen
magnum
stenosis
was
detected
.
The
patient
was
operated
and
posterior
fossa
decompression
was
accomplished
to
prevent
compression
of
respiratory
centers
and
neurons
.
This
case
is
unique
with
the
narrowest
foramen
magnum
reported
up
to
date
and
the
sympathetic
dysfunction
which
is
not
reported
as
a
complication
in
achondroplasic
patients
.
The
authors
review
the
relevant
literature
,
focusing
on
the
indications
for
cervicomedullary
decompression
in
infants
with
achondroplasia
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated