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Low-level mesodermal somatic mutation mosaicism: late-onset craniofacial and cervical spinal hyperostoses.
[proteus syndrome]
Craniofacial
and
cervical
spinal
hyperostoses
are
rarely
seen
in
the
absence
of
other
abnormalities
.
Only
seven
patients
with
isolated
cranial
hyperostoses
have
been
reported
,
and
only
a
single
patient
with
both
calvarial
and
cervical
vertebral
hyperostoses
.
We
report
on
an
adult
with
late-onset
right
-sided
asymmetrical
hyperostoses
of
the
cranium
,
mandible
,
and
cervical
vertebrae
in
the
absence
of
an
AKT
1
mutation
.
At
presentation
,
the
patient
displayed
neither
generalized
overgrowth
nor
dysregulated
adipose
tissue
.
Standard
polymerase
chain
reaction
and
Sanger
sequencing
of
DNA
extracted
from
formalin-fixed
paraffin-embedded
frontal
bone
and
mandibular
angular
bone
was
negative
for
an
AKT
1
mutation
.
Though
the
patient
's
clinical
manifestations
did
not
fulfill
the
consensus
diagnostic
criteria
of
Proteus
syndrome
,
the
mosaic
distribution
of
lesions
,
the
sporadic
occurrence
,
and
the
patient
's
progressive
course
were
consistent
with
a
somatic
mosaicism
similar
to
that
syndrome
.
Hence
,
the
patient
's
phenotype
may
have
been
caused
by
a
very
late
mesodermal
somatic
mutation
during
embryogenesis
.
Diseases
Validation
Diseases presenting
"akt1 mutation"
symptom
proteus syndrome
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