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Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Ultrasonography
at
23
weeks
of
gestation
documented
the
presence
of
megacystis
with
horseshoe
kidney
,
microcolon
,
intestinal
malrotation
,
and
decreased
amniotic
fluid
volume
.
After
pregnancy
termination
,
an
autopsy
was
performed
.
The
external
phenotype
was
diagnostic
of
the
trisomy
18
syndrome
confirmed
by
chromosome
examination
.
The
fetus
also
had
a
massively
distended
bladder
with
parchment-
thin
wall
,
microcolon
,
intestinal
malrotation
but
no
urethral
obstruction
or
hydronephrosis
.
No
ganglion
cells
were
present
in
the
colon
or
bladder
.
This
has
not
been
mentioned
in
other
reported
cases
and
,
therefore
,
suggests
pathogenic
heterogeneity
.
The
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
is
a
rare
autosomal
recessive
condition
of
unknown
pathogenesis
whose
genes
map
to
15
q
24
.
Thus
,
its
previously
undescribed
presence
in
trisomy
18
further
suggests
etiologic
heterogeneity
.
Diseases
Validation
Diseases presenting
"previously undescribed presence in trisomy"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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