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Craniosynostosis in Kabuki syndrome.
[kabuki syndrome]
Niikawa-
Kuroki
,
or
Kabuki
syndrome
(
KS
)
,
is
characterized
by
distinctive
facial
features
,
skeletal
anomalies
,
persisting
fingertip
pads
with
dermatoglyphic
abnormalities
,
short
stature
,
and
mental
retardation
.
Neurological
manifestations
and
CNS
anomalies
have
been
described
in
some
patients
with
this
condition
.
However
,
craniosynostosis
has
been
documented
in
only
4
patients
with
KS
who
did
not
undergo
operations
.
The
authors
report
a
case
of
KS
with
unicoronal
synostosis
that
constitutes
the
first
documented
instance
of
a
patient
with
this
syndrome
submitted
to
surgery
.
Previous
reported
instances
of
craniosynostosis
occurring
in
KS
are
briefly
reviewed
.
Although
rarely
documented
,
craniosynostosis
might
represent
a
relatively
frequent
feature
of
this
syndrome
.
Kabuki
syndrome
should
be
considered
at
the
time
of
evaluating
children
with
craniosynostosis
.
The
diagnosis
of
KS
can
be
suspected
from
the
patients
'
characteristic
facial
features
.
Kabuki
syndrome
appears
to
be
an
underdiagnosed
condition
in
the
craniosynostosis
population
.
Given
that
most
patients
with
this
syndrome
suffer
from
only
mild
to
moderate
mental
retardation
,
surgical
correction
can
be
considered
in
instances
of
KS
with
craniosynostosis
.
Diseases
Validation
Diseases presenting
"surgical correction can be considered in instances of ks with craniosynostosis"
symptom
kabuki syndrome
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