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Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Megacystis
on
antenatal
scan
in
female
fetuses
is
rare
and
has
serious
diagnostic
implications
.
We
report
two
cases
of
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
in
female
infants
in
whom
antenatal
scan
abnormalities
were
identified
,
but
the
diagnosis
not
made
until
after
delivery
.
MMIHS
is
a
rare
autosomal
recessive
condition
which
is
usually
lethal
in
the
first
year
of
life
.
Prenatal
diagnosis
is
hampered
by
the
lack
of
specific
diagnostic
findings
on
ultrasound
and
the
absence
of
an
identified
genetic
locus
.
The
prenatal
findings
in
MMIHS
are
reviewed
and
contrasted
with
those
of
other
causes
of
lower
abdominal
masses
on
antenatal
ultrasound
.
Diseases
Validation
Diseases presenting
"the absence of an identified genetic locus"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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