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Mayer-Rokintansky-Kuster-Hauser syndrome associated with atrial septal defect, partial anomalous pulmonary venous connection and unilateral kidney--an unusual triad of anomalies.
[holt-oram syndrome]
Mayer
Rokintansky-
Kuster-
Hauser
syndrome
is
characterized
by
the
congenital
absence
of
the
vagina
with
a
variety
of
Müllerian
duct
anomalies
.
Because
of
normal
sexual
development
,
the
syndrome
usually
remains
undetected
until
primary
amenorrhea
and
/
or
difficulty
in
attempting
sexual
intercourse
result
in
the
diagnosis
.
MRKHS
frequently
is
associated
with
anomalies
of
the
urinary
tract
(
unilateral
agenesis
,
or
ectopia
of
one
or
both
kidneys
,
horse-shoe
kidney
)
,
cervico-
thoracic
region
(
asymmetric
,
fused
or
wedged
vertebrae
,
scoliosis
and
Klippel-
Feil
anomaly
)
,
congenital
cardiac
defects
,
hearing
defects
,
and
digital
anomalies
of
varying
severity
.
Congenital
heart
diseases
in
the
form
of
atrial
septal
defect
,
Holt
-
Oram
Syndrome
with
or
without
aorticopulmonary
window
,
pulmonary
stenosis
etc
in
association
with
MRKHS
have
been
described
in
the
literature
.
We
present
a
case
of
MRKHS
with
unilateral
agenesis
of
the
kidney
and
atrial
septal
defect
with
partial
anomalous
pulmonary
venous
connection
.
This
combination
of
anomalies
has
not
been
reported
in
the
literature
so
far
.
The
various
presentations
and
the
pathogenesis
of
the
condition
are
discussed
.
Diseases
Validation
Diseases presenting
"unilateral agenesis"
symptom
holt-oram syndrome
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