Rare Diseases Symptoms Automatic Extraction
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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
"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