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[Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process].
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
a
chromosome
pathology
produced
by
a
deletion
in
the
distal
region
of
the
short
arm
of
chromosome
4
.
It
is
characterised
by
the
presence
of
a
peculiar
phenotype
,
delayed
growth
,
delayed
psychomotor
development
and
epilepsy
.
To
describe
the
characteristics
of
a
series
of
children
with
WHS
,
including
the
mean
amount
of
time
spent
on
reaching
the
diagnosis
,
and
to
evaluate
the
opinion
of
the
families
about
the
diagnostic
process
.
The
researchers
contacted
the
National
WHS
Association
and
,
through
them
,
contact
was
established
with
29
families
affected
by
the
condition
.
Information
was
collected
about
the
clinical
features
of
the
child
and
the
opinion
about
the
diagnostic
process
,
and
the
families
were
asked
to
present
medical
reports
that
confirmed
the
information
they
had
given
.
Once
a
database
of
information
about
the
patients
had
been
created
,
it
was
submitted
to
a
statistical
analysis
.
Information
was
obtained
on
27
families
.
The
mean
age
of
the
patients
is
currently
6
.
94
±
6
.
37
years
.
The
mean
age
of
diagnosis
was
14
.
34
months
.
Delayed
intrauterine
growth
exists
in
92
.
6
%
of
the
pregnancies
.
Epilepsy
is
present
in
92
.
6
%
of
patients
,
44
.
4
%
of
them
in
monotherapy
.
Delayed
psychomotor
/
cognitive
development
exists
in
all
the
patients
.
Thirty
-
three
per
cent
of
them
can
walk
unaided
.
The
parents
rated
the
treatment
offered
by
physicians
with
a
mean
score
of
7
.
25
±
2
.
17
and
the
information
they
were
provided
with
was
given
a
score
of
6
.
29
±
2
.
11
.
No
references
have
been
found
regarding
the
mean
age
of
diagnosis
for
WHS
.
In
our
sample
there
are
important
variations
in
this
respect
,
possibly
influenced
by
the
phenotype
of
the
case
and
the
doctor
's
own
experience
.
The
clinical
characteristics
are
similar
to
the
ones
that
were
expected
.
The
estimated
degree
of
dependence
is
high
and
,
in
contrast
,
the
quality
of
the
information
received
by
the
family
is
low
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated