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An osteosclerotic form of Robinow syndrome.
[oligodontia]
Robinow
syndrome
(
RS
)
is
a
clinically
and
genetically
heterogenous
condition
primarily
characterized
by
short
stature
,
mesomelia
,
genital
hypoplasia
,
oral
abnormalities
,
and
a
facial
gestalt
that
includes
hypertelorism
,
a
short
nose
,
and
a
broad
mouth
.
The
disorder
exists
in
both
a
dominant
and
a
more
severe
recessive
form
.
Here
two
unrelated
cases
of
sporadic
RS
are
described
with
the
additional
finding
of
axial
and
appendicular
osteosclerosis
.
These
two
patients
,
coupled
with
three
additional
patients
previously
described
in
the
literature
,
may
represent
a
distinct
sub-phenotype
of
this
condition
.
Diseases
Validation
Diseases presenting
"oral abnormalities"
symptom
oligodontia
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