Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Type 1 collagenopathy presenting with a Russell-Silver phenotype.
[dentinogenesis imperfecta]
Osteogenesis
imperfecta
(
OI
)
is
a
heterogeneous
group
of
inherited
disorders
of
bone
formation
,
resulting
in
low
bone
mass
and
an
increased
propensity
to
fracture
.
It
exhibits
a
broad
spectrum
of
clinical
severity
,
ranging
from
multiple
fractures
in
utero
and
perinatal
death
,
to
normal
adult
stature
and
low
fracture
incidence
.
Extra
-
skeletal
features
of
OI
include
blue
sclera
,
hearing
loss
,
skin
hyperlaxity
,
joint
hyperextensibility
,
and
dentinogenesis
imperfecta
.
The
pro
α
1
(
I
)
and
proα
2
(
I
)
chains
of
collagen
1
are
encoded
by
the
COL
1
A
1
and
COL
1
A
2
genes
,
respectively
;
quantitative
or
qualitative
defects
in
type
I
collagen
synthesis
usually
manifest
as
types
of
OI
or
some
sub-types
of
EDS
.
The
majority
of
patients
(
about
90
%
)
with
a
clinical
diagnosis
of
OI
have
a
mutation
in
the
COL
1
A
1
or
COL
1
A
2
genes
,
which
shows
an
autosomal
dominant
pattern
of
inheritance
.
Six
other
genes
,
CRTAP
,
LEPRE
1
,
FKBP
10
,
PP
1
B
,
SP
7
/
Osterix
(
OSX
)
,
and
SERPINH
1
,
are
associated
with
autosomal
recessive
forms
of
OI
.
However
,
other
,
rare
phenotypes
have
also
been
described
.
There
are
many
differential
diagnoses
of
the
short
,
syndromic
child
,
including
chromosomal
,
single
gene
,
and
multifactorial
causes
.
However
,
one
condition
of
particular
relevance
in
the
context
of
this
report
is
the
Russell
-
Silver
syndrome
(
RSS
)
.
As
originally
described
,
the
RSS
is
a
very
specific
condition
.
However
,
it
has
subsequently
become
an
umbrella
term
for
a
heterogeneous
group
of
conditions
presenting
with
short
stature
and
triangular
shape
to
the
face
.
A
significant
proportion
of
these
are
now
believed
to
be
due
to
imprinting
defects
at
11
p
15
.
However
,
the
cause
in
many
cases
remains
unknown
.
We
describe
two
cases
with
a
phenotypic
overlap
between
OI
and
RSS
who
both
have
COL
1
A
1
mutations
.
Thus
,
a
type
1
collagenopathy
should
be
considered
in
the
differential
diagnosis
of
syndromic
short
stature
.
Diseases
Validation
Diseases presenting
"blue sclera"
symptom
dentinogenesis imperfecta
This symptom has already been validated