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Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.
[dentinogenesis imperfecta]
Osteogenesis
imperfecta
(
OI
)
type
V
is
a
specific
OI
phenotype
with
interosseous
membrane
calcification
of
the
forearm
and
hyperplastic
callus
formation
as
typical
features
.
The
causative
gene
mutation
for
OI
type
V
has
been
recently
discovered
.
The
purpose
of
this
report
is
to
review
the
clinical
and
radiographic
characteristics
of
mutation
confirmed
OI
type
V
in
detail
.
Sixteen
(
nine
familial
and
seven
sporadic
)
patients
were
enrolled
in
the
study
.
Blue
sclera
and
dentinogenesis
imperfecta
were
not
evident
in
any
patient
.
However
,
hypodontia
in
the
permanent
teeth
,
ectopic
eruption
,
and
short
roots
in
molars
were
additionally
observed
in
11
patients
.
Of
the
radiographic
abnormalities
,
cortical
thickening
and
bony
excrescence
of
interosseous
margin
of
the
ulna
was
the
most
common
finding
,
followed
by
overgrowth
of
the
olecranon
and
/
or
coronoid
process
of
the
ulna
.
Slender
ribs
and
sloping
of
the
posterior
ribs
with
or
without
fractures
were
also
a
consistent
finding
.
Hyperplastic
callus
was
detected
in
75
%
of
patients
and
was
commonly
encountered
at
the
femur
.
Heterotopic
ossification
in
the
muscles
and
tendon
insertion
sites
were
noted
in
four
patients
,
which
resulted
in
bony
ankylosis
or
contracture
of
joints
.
The
current
study
confirms
common
clinical
and
radiographic
findings
of
OI
type
V
and
reports
additional
phenotypic
information
.
These
observations
provide
clues
to
recognize
OI
type
V
more
promptly
and
guide
to
direct
targeted
molecular
study
.
©
2013
Wiley
Periodicals
,
Inc
.
Diseases
Validation
Diseases presenting
"blue sclera"
symptom
dentinogenesis imperfecta
This symptom has already been validated
