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Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: case report and review of the literature.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Report
of
MMIHS
in
siblings
with
emphasis
on
diagnostic
aspects
in
antenatal
scanning
and
genetics
.
Two
case
reports
and
review
of
the
literatureThe
firstborn
child
of
this
family
was
a
female
infant
with
a
postnatal
diagnosis
of
MMIHS
.
In
the
consecutive
pregnancy
frequent
antenatal
scans
were
performed
,
which
showed
normal
fetal
anatomy
until
19
weeks
'
gestation
.
The
pregnancy
was
carried
on
and
at
36
weeks
'
gestation
dilatation
of
the
renal
collecting
system
and
dilated
loops
of
bowel
were
seen
,
suggestive
of
MMIHS
.
Prenatal
diagnosis
of
MMIHS
remains
difficult
.
Further
research
into
the
genetics
of
this
condition
is
necessary
and
would
be
an
important
tool
in
counselling
parents
with
an
affected
child
in
view
of
the
chances
having
an
affected
child
at
subsequent
pregnancies
.
A
multi-centre
collection
of
a
genetic
pool
from
parents
may
be
helpful
for
future
research
.
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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