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Kabuki syndrome: a challenge for the primary care provider.
[kabuki syndrome]
Using
a
case
format
,
the
pathogenesis
,
clinical
manifestations
,
diagnosis
,
and
management
of
Kabuki
syndrome
,
a
rare
genetic
condition
,
is
presented
.
Nurse
practitioners
(
NPs
)
may
encounter
patients
presenting
to
the
primary
care
setting
with
this
rare
syndrome
;
understanding
this
condition
may
help
them
to
better
care
for
these
patients
.
A
case
presentation
of
a
pediatric
patient
supported
by
the
currently
available
literature
from
multiple
health
and
medial
databases
.
Kabuki
syndrome
is
a
rare
phenomenon
that
occurs
in
1
in
every
32
,
000
births
.
A
diagnosis
of
this
syndrome
may
take
several
months
to
years
because
there
are
no
specific
tests
,
and
the
physical
features
may
be
subtle
at
birth
,
becoming
more
pronounced
over
a
period
of
time
during
childhood
.
The
degree
of
disease
severity
varies
widely
.
Understanding
this
syndrome
increases
the
NP
's
ability
to
provide
primary
care
to
affected
patients
and
their
families
.
Management
of
this
condition
requires
the
NP
take
on
the
role
of
gatekeeper
,
so
timely
coordination
of
specialty
or
subspecialty
services
is
provided
.
Special
consideration
should
be
given
to
monitoring
caregiver
fatigue
and
impact
on
siblings
so
family
members
can
be
directed
to
the
appropriate
support
services
.
Diseases
Validation
Diseases presenting
"is presented"
symptom
kabuki syndrome
von hippel-lindau disease
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