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Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.
[achondroplasia]
We
report
on
a
female
patient
with
an
exceedingly
rare
combination
of
achondroplasia
and
multiple
-suture
craniosynostosis
.
Besides
the
specific
features
of
achondroplasia
,
synostosis
of
the
metopic
,
coronal
,
lambdoid
,
and
squamosal
sutures
was
found
.
Series
of
neurosurgical
interventions
were
carried
out
,
principally
for
acrocephaly
and
posterior
plagiocephaly
.
The
most
common
achondroplasia
mutation
,
a
p
.
Gly
380
Arg
in
the
fibroblast
growth
factor
receptor
3
(
FGFR
3
)
gene
,
was
detected
.
Cytogenetic
and
array
CGH
analyses
,
as
well
as
molecular
genetic
testing
of
FGFR
1
,
2
,
3
and
TWIST
1
genes
failed
to
identify
any
additional
genetic
alteration
.
It
is
suggested
that
this
unusual
phenotype
is
a
result
of
variable
expressivity
of
the
common
achondroplasia
mutation
.
Diseases
Validation
Diseases presenting
"craniosynostosis"
symptom
achondroplasia
congenital diaphragmatic hernia
dentin dysplasia
familial hypocalciuric hypercalcemia
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
proteus syndrome
wolf-hirschhorn syndrome
This symptom has already been validated
