Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"growth factor receptor"
symptom
achondroplasia
aromatase deficiency
cholangiocarcinoma
dedifferentiated liposarcoma
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
kallmann syndrome
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom