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
"female patient"
symptom
achondroplasia
adrenal incidentaloma
alexander disease
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
coats disease
cohen syndrome
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
fabry disease
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
