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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
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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