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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
"delayed psychomotor development and epilepsy"
symptom
wolf-hirschhorn syndrome
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