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Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.
[achondroplasia]
Thanatophoric
dysplasia
,
hypochondroplasia
and
achondroplasia
are
all
caused
by
FGFR
3
(
fibroblast
growth
factor
receptor
3
)
mutations
.
Neuropathological
findings
of
temporal
lobe
dysplasia
are
found
in
thanatophoric
dysplasia
,
and
temporal
and
occipital
lobe
abnormalities
have
been
described
recently
in
brain
imaging
studies
of
children
with
hypochondroplasia
.
We
describe
twins
discordant
for
achondroplasia
,
in
one
of
whom
the
prenatal
diagnosis
was
based
on
ultrasound
and
fetal
MRI
documentation
of
temporal
and
occipital
lobe
abnormalities
characteristic
of
hypochondroplasia
,
in
addition
to
the
finding
of
short
long
bones
.
Despite
the
intracranial
findings
suggestive
of
hypochondroplasia
,
achondroplasia
was
confirmed
following
postnatal
clinical
and
genetic
testing
.
These
intracranial
abnormalities
have
not
been
previously
described
in
a
fetus
with
achondroplasia
.
Diseases
Validation
Diseases presenting
"occipital lobe abnormalities characteristic"
symptom
achondroplasia
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