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Fetal echogenic bowel in association with Zellweger syndrome.
[zellweger syndrome]
Increased
echogenicity
of
fetal
bowel
in
the
second
trimester
obstetrical
ultrasound
has
been
described
in
association
with
several
pathologic
conditions
,
such
as
growth
restriction
,
aneuploidy
,
cystic
fibrosis
,
congenital
infections
,
and
gastrointestinal
malformations
.
Zellweger
syndrome
(
ZS
)
is
the
prototype
of
peroxisomal
disorders
characterized
by
craniofacial
dysmorphism
and
severe
neurologic
abnormalities
.
We
report
two
cases
with
fetal
echogenic
bowel
(
FEB
)
but
no
associated
anomalies
and
normal
fetal
growth
.
After
birth
,
clinical
and
laboratory
findings
led
to
diagnosis
of
ZS
.
Association
of
FEB
with
neurometabolic
disorders
is
limited
to
a
few
case
reports
in
the
medical
literature
.
To
the
best
of
our
knowledge
,
this
is
the
first
report
of
ZS
associated
with
FEB
.