Rare Diseases Symptoms Automatic Extraction
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[Prune belly syndrome and congenital kidney tumors].
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
High
end
sonography
allows
the
prenatal
localization
of
the
kidneys
and
the
corresponding
urine
drainage
system
as
early
as
10
-
13
weeks
of
gestation
.
In
mid
second
trimester
,
the
voiding
and
filling
of
the
urinary
bladder
can
be
demonstrated
by
ultrasound
.
Obstructions
are
the
most
common
abnormalities
of
the
urogenital
tract
.
Though
less
frequent
in
incidence
,
more
complex
sequences
of
anomalies
such
as
Prune
Belly
Syndrome
or
Megacystis
-
Microcolon
-
Intestinal
-
Hypoperistalsis
-
Syndrome
(
MMIHS
)
can
also
be
detected
in
early
gestational
age
.
Pathogenesis
,
prenatal
diagnosis
,
pre-
and
postnatal
treatment
options
and
prognosis
are
discussed
.
The
same
risk-adapted
procedures
aimed
to
protect
the
fetal
urinary
excretory
function
known
in
the
therapeutic
regimen
of
obstructive
uropathy
are
available
as
treatment
options
.
These
range
from
non-invasive
ultrasound
for
diagnosis
and
surveillance
to
needle
procedures
or
even
endoscopic
interventions
.
Another
rare
entity
of
renal
abnormalities
are
congenital
neoplasm
'
s--megaloblastic
nephroma
,
nephroblastoma
and
neuroblastoma
.
Prognosis
and
obstetrical
management
are
to
be
determined
individually
for
each
patient
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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