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A rare case of osteogenesis imperfecta combined with complete tooth loss.
[dentinogenesis imperfecta]
Abstract
Osteogenesis
imperfecta
(
OI
)
is
a
heritable
disorder
of
the
connective
tissue
characterized
by
blue
sclerae
,
osteoporosis
and
bone
fragility
.
Dentinogenesis
imperfecta
type
I
is
commonly
seen
in
OI
patients
,
but
other
dental
impairments
,
such
as
tooth
agenesis
or
complete
tooth
loss
,
are
rarely
reported
for
these
patients
.
Here
,
we
report
the
case
of
a
37
-
year
-old
female
Chinese
OI
patient
who
experienced
complete
tooth
loss
before
puberty
.
The
patient
has
a
family
history
of
OI
and
her
father
has
a
history
of
tooth
loss
.
She
showed
obvious
OI
phenotypes
,
including
a
dwarfed
stature
,
blue
sclerae
,
scoliosis
,
pigeon
chest
and
a
history
of
fractures
.
Tooth
loss
began
at
the
age
of
6
years
and
continued
until
complete
tooth
loss
at
20
years
;
this
occurred
in
the
absence
of
dental
decay
,
gum
disease
,
accidents
or
drug
usage
.
Radiological
studies
revealed
osteoporosis
of
the
lower
limbs
and
an
underdeveloped
scapula
.
Type
I
collagen
gene
analysis
identified
a
known
c
.
2314
G
>
A
(
p
.
Gly
772
S
er
)
substitution
in
the
COL
1
A
2
gene
,
which
we
suggest
affects
the
interaction
between
type
I
collagen
and
extracellular
matrix
proteins
,
including
cartilage
oligomeric
matrix
protein
,
phosphophoryn
and
SPARC
(
secreted
protein
acidic
and
rich
in
cysteine
)
.
In
silico
prediction
indicated
a
relatively
mild
effect
of
the
mutation
,
so
it
is
conceivable
that
the
severity
of
the
clinical
phenotype
may
result
from
additional
mutations
in
candidate
genes
responsible
for
abnormal
dental
phenotypes
in
this
family
.
To
our
knowledge
,
this
is
the
first
report
of
an
OI
patient
with
a
phenotype
of
complete
tooth
loss
at
a
young
age
.
Diseases
Validation
Diseases presenting
"gum disease"
symptom
dentinogenesis imperfecta
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