Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees.
[oligodontia]
Even
though
tooth
agenesis
is
the
most
common
developmental
anomaly
of
the
human
dentition
,
its
genetic
background
and
pathogenic
mechanism
(
s
)
still
remain
poorly
understood
.
Syndromic
and
isolated
forms
of
hypodontia
have
been
described
and
can
occur
sporadically
or
in
families
.
We
describe
and
analyse
the
hypo-
/
oligodontia
phenotype
variations
in
families
.
The
index
patient
suffers
from
severe
or
mild
hypodontia
;
case-parents
/
sib
records
are
available
.
Furthermore
,
we
aim
to
evaluate
whether
the
different
agenesis
patterns
in
the
pedigrees
are
predictive
of
mutations
in
specific
genes
based
on
reported
genotype-phenotype
associations
.
Dental
records
and
pedigrees
were
collected
from
79
families
.
In
67
families
,
the
index
patient
presented
with
oligodontia
while
in
12
families
with
hypodontia
.
The
phenotype
data
of
66
oligodontia
index
patients
were
analysed
with
the
Tooth
Agenesis
Code
software
.
Nine
families
counted
two
members
;
one
family
counted
three
members
affected
with
oligodontia
.
Twenty
-
four
oligodontia
families
respectively
had
one
(
n
=
17
)
,
two
(
n
=
4
)
,
three
(
n
=
2
)
or
four
(
n
=
1
)
additional
family
members
presenting
with
hypodontia
.
Of
the
77
oligodontia
cases
,
two
showed
the
same
tooth
agenesis
pattern
,
while
75
patients
showed
unique
tooth
agenesis
patterns
.
Despite
familial
aggregation
and
expected
Mendelian
segregation
,
the
number
of
missing
teeth
in
the
familial
hypo-
/
oligodontia
phenotypes
and
the
tooth
agenesis
patterns
are
highly
variable
between
the
affected
family
members
.
Therefore
,
we
hypothesize
that
tooth
agenesis
is
not
(
always
)
a
simple
monogenic
condition
,
but
additional
genetic
or
environmental
factors
can
modify
the
expression
of
the
phenotype
.
Diseases
Validation
Diseases presenting
"but additional genetic or environmental factors can modify the expression of the phenotype"
symptom
oligodontia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom