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Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V.
[dentinogenesis imperfecta]
Swellings
over
the
upper
and
lower
limbs
were
encountered
in
a
one
-
year
-old
child
.
Skeletal
survey
showed
a
constellation
of
distinctive
radiographic
abnormalities
of
osteoporosis
,
hyperplastic
callus
and
ossification
of
the
interosseous
membrane
of
the
forearm
,
femora
,
and
to
lesser
extent
the
tibiae
.
Neither
wormian
bones
of
the
skull
nor
dentinogenesis
imperfecta
was
present
.
Genetic
tests
revealed
absence
of
mutation
in
COL
1
A
1
or
COL
1
A
2
genes
,
respectively
.
The
overall
phenotypic
features
were
consistent
with
the
diagnosis
of
osteogenesis
imperfecta
type
V
(
OI
-V
)
.
The
aim
of
this
paper
is
to
distinguish
between
swellings
because
of
intrinsic
bone
disorders
and
these
due
to
child
physical
abuse
.
