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[Antenatal discovery of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) at 12 weeks gestation].
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Megacystis
on
antenatal
scan
in
female
fetuses
is
rare
and
has
diagnostic
implications
.
We
report
a
case
of
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
in
a
female
infant
.
The
antenatal
scan
revealed
abnormalities
,
but
the
diagnosis
was
not
established
until
after
delivery
.
MMIH
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
ultrasound
findings
and
the
absence
of
an
identified
genetic
locus
.