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Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report.
[cohen syndrome]
Frontometaphyseal
dysplasia
,
or
Gorlin-
Cohen
syndrome
,
is
an
X-
linked
disorder
primarily
characterized
by
skeletal
dysplasia
,
such
as
hyperostosis
of
the
skull
and
abnormalities
of
tubular
bone
modeling
.
Some
patients
develop
extraskeletal
manifestations
,
such
as
urinary
tract
anomalies
.
A
26
-
year
-old
male
patient
was
diagnosed
with
frontometaphyseal
dysplasia
and
suffered
from
chronic
urine
retention
.
Although
the
patient
was
primarily
diagnosed
with
a
neurogenic
bladder
,
our
work-up
revealed
posterior
urethral
valves
,
bladder
neck
stenosis
,
and
multiple
bladder
stones
.
The
patient
was
treated
by
transurethral
resection
of
the
urethral
valves
and
bladder
neck
with
simultaneous
open
cystolithotomy
to
remove
the
bladder
calculi
.
After
removal
of
the
catheter
,
the
patient
voided
normally
and
had
no
post-void
residual
urine
.
At
the
1
-
year
follow-up
,
he
was
still
voiding
normally
;
his
urodynamic
investigation
was
also
normal
.
In
the
recent
literature
,
there
is
scarce
information
on
the
diagnosis
,
treatment
,
and
follow-up
of
patients
with
malformations
of
the
urinary
tract
as
a
result
of
Gorlin-
Cohen
syndrome
.
The
case
presented
here
could
guide
urological
approaches
to
patients
suffering
from
this
rare
condition
.
Diseases
Validation
Diseases presenting
"and multiple bladder stones"
symptom
cohen syndrome
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