Rare Diseases Symptoms Automatic Extraction
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Wolf-Hirschhorn syndrome with improvement of renal function.
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
a
chromosomal
disorder
characterized
by
partial
deletion
of
the
short
arm
of
chromosome
4
.
We
describe
a
girl
with
a
de
novo
unbalanced
traslocation
t
(
4
;
7
)
(
p
16
.
2
;
p
22
)
,
associated
with
a
mild
version
of
a
classical
WHS
phenotype
.
She
did
not
present
major
urinary
tract
abnormalities
but
had
parenchymal
hyperechogenicity
at
renal
ultrasound
at
the
birth
with
normal
renal
scintigraphy
.
She
had
also
a
reduction
of
GFR
with
elevated
levels
of
blood
urea
nitrogen
and
serum
potassium
until
the
age
of
6
months
.
We
followed
the
patient
with
periodic
clinical
examination
and
laboratory
and
radiological
investigations
and
observed
at
the
age
of
5
years
a
normal
renal
ultrasound
without
parenchymal
hyperechogenicity
.
