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Clinical features in adult patient with Wolf-Hirschhorn syndrome.
[wolf-hirschhorn syndrome]
The
Wolf-
Hirschhorn
syndrome
(
WHS
)
encompasses
deletions
at
the
distal
part
of
the
short
arm
of
one
chromosome
4
(
4
p
16
region
)
.
Clinical
signs
frequently
include
a
typical
facial
appearance
,
mental
retardation
,
intrauterine
and
postnatal
growth
retardation
,
hypotonia
with
decreased
muscle
bulk
and
seizures
besides
congenital
heart
malformations
,
midline
defects
,
urinary
tract
malformations
and
brain
,
hearing
and
ophthalmologic
malformations
.
Pathogenesis
of
WHS
is
multigenic
and
many
factors
are
involved
in
prediction
of
prognosis
such
as
extent
of
deletion
,
the
occurrence
of
severe
chromosome
anomalies
,
the
severe
of
seizures
,
the
existence
of
serious
internal
,
mainly
cardiac
,
abnormalities
and
the
degree
of
mental
retardation
.
The
phenotype
of
adult
with
WHS
is
in
general
similar
to
that
of
childhood
being
facial
dysmorphism
,
growth
retardation
and
mental
retardation
the
rule
in
both
adults
and
children
.
Avoid
long
-term
complications
and
provide
rehabilitation
programs
and
genetic
counseling
may
be
essential
in
these
patients
.
Diseases
Validation
Diseases presenting
"distal part of the short arm"
symptom
wolf-hirschhorn syndrome
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