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Dental evaluation of Kabuki syndrome patients.
[kabuki syndrome]
Kabuki
syndrome
is
a
genetic
disorder
of
unknown
etiology
characterized
by
mental
retardation
,
growth
deficiency
,
and
peculiar
face
(
i
.
e
.
,
long
palpebral
fissures
,
eversion
of
the
lateral
third
of
the
lower
eyelids
,
prominent
ears
,
and
broad
and
depressed
nasal
tip
)
.
Oral
manifestations
commonly
observed
in
Kabuki
syndrome
may
comprise
cleft
lip
/
palate
,
bifid
tongue
and
uvula
,
malocclusion
,
and
dental
abnormalities
.
We
evaluated
the
dental
findings
of
eight
patients
with
Kabuki
syndrome
.
One
presented
cleft
palate
;
three
presented
caries
;
and
seven
had
missing
teeth
,
with
the
upper
lateral
incisors
and
inferior
central
incisors
being
the
most
commonly
absent
.
All
missing
teeth
were
permanent
,
and
there
was
no
alteration
of
dental
chronology
or
morphology
.
Because
most
patients
had
mixed
dentition
,
the
presence
or
absence
of
primary
teeth
was
assessed
through
the
parents
'
reports
.
One
patient
presented
an
absent
upper
canine
,
which
had
not
been
reported
previously
in
the
literature
.
Dental
findings
may
be
helpful
for
clinical
diagnosis
,
or
they
may
be
an
additional
finding
to
substantiate
the
diagnosis
of
Kabuki
syndrome
in
children
with
mild
phenotype
.
Diseases
Validation
Diseases presenting
"mild phenotype"
symptom
alpha-thalassemia
cowden syndrome
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
neonatal adrenoleukodystrophy
wolf-hirschhorn syndrome
zellweger syndrome
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