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Craniofacial and dental features in kabuki syndrome patients.
[kabuki syndrome]
Objective
:
To
describe
oral
manifestations
in
Brazilian
individuals
with
Kabuki
syndrome
,
a
multiple
congenital
anomaly
/
mental
retardation
syndrome
.
Study
Design
:
A
total
of
16
Kabuki
syndrome
individuals
,
aged
between
8
to
24
Â
years
and
of
both
sexes
,
were
referred
by
the
Department
of
Clinical
Genetics
for
oral
treatment
and
follow-up
to
the
Oral
Care
Center
for
Inherited
Diseases
,
University
Hospital
of
BrasÃlia
,
BrasÃlia
,
Brazil
.
Each
individual
underwent
complete
physical
examination
,
as
well
as
intraoral
and
radiographic
examinations
.
Results
:
Craniofacial
and
dental
alterations
were
observed
in
all
Kabuki
syndrome
patients
examined
.
In
addition
,
atypical
shape
of
the
molars
'
crowns
,
occlusal
convergence
of
the
premolars
'
crowns
,
and
root
dilaceration
were
also
observed
.
Enamel
diffuse
opacities
were
observed
in
permanent
dentition
(
n
 
=
 
10
)
.
Conclusion
:
A
great
clinical
heterogeneity
was
observed
in
Kabuki
syndrome
individuals
in
line
with
previous
studies
in
the
literature
.
Further
clinical
and
molecular
studies
are
necessary
in
order
to
better
understand
the
presence
of
dental
anomalies
in
this
syndrome
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated
