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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
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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