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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
"osteoporosis"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
cutaneous mastocytosis
dentinogenesis imperfecta
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
inclusion body myositis
kallmann syndrome
oligodontia
pyomyositis
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated