Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.
[achondroplasia]
We
describe
a
prenatal
molecular
diagnosis
of
hypochondroplasia
(
HCH
)
in
a
pregnancy
not
at
risk
of
HCH
and
review
the
literature
on
prenatal
diagnosis
of
HCH
.
A
28
-
year
-old
primigravid
woman
was
referred
for
genetic
counseling
at
30
weeks
of
gestation
because
of
short-limbed
dwarfism
in
the
fetus
.
The
woman
had
a
body
height
of
152
cm
.
Her
husband
had
a
body
height
of
180
cm
.
Level
II
ultrasound
showed
a
normal
amount
of
amniotic
fluid
and
a
singleton
fetus
with
fetal
biometry
equivalent
to
30
weeks
except
for
short
limbs
.
Fetal
biometry
measurements
were
as
follows
:
biparietal
diameter
=
7
.
38
cm
(
30
weeks
)
;
head
circumference
=
28
.
14
cm
(
30
weeks
)
;
abdominal
circumference
(
AC
)
=
24
.
64
cm
(
30
weeks
)
;
femur
length
(
FL
)
=
3
.
97
cm
(
<
5
th
centile
)
;
FL
/
AC
ratio
=
0
.
161
(
normal
>
0
.
18
)
;
humerus
=
3
.
64
cm
(
<
5
th
centile
)
;
radius
=
3
.
49
cm
(
30
weeks
)
;
ulna
=
3
.
76
cm
(
<
5
(
th
)
centile
)
;
tibia
=
3
.
67
cm
(
<
5
th
centile
)
;
and
fibula
=
3
.
72
cm
(
<
5
th
centile
)
.
The
digits
and
craniofacial
appearance
were
normal
.
A
tentative
diagnosis
of
achondroplasia
(
ACH
)
was
made
.
DNA
testing
for
the
FGFR
3
gene
and
whole-genome
array
comparative
genomic
hybridization
(
aCGH
)
analysis
were
performed
using
cord
blood
DNA
obtained
by
cordocentesis
.
FGFR
3
mutation
analysis
revealed
a
de
novo
heterozygous
c
.
833
A
>
G
,
TAC
>
TGC
transversion
in
exon
7
leading
to
a
p
.
Tyr
278
Cys
(
Y
278
C
)
mutation
in
the
FGFR
3
protein
.
aCGH
analysis
revealed
no
genomic
imbalance
in
cord
blood
.
After
delivery
,
the
fetus
had
short
limbs
,
a
narrow
thorax
,
brachydactyly
,
and
relative
macrocephaly
.
Cytogenetic
analysis
of
cultured
placental
cells
revealed
a
karyotype
of
46
,
XX
.
Prenatal
diagnosis
of
abnormal
ultrasound
findings
suspicious
of
ACH
should
include
a
differential
diagnosis
of
HCH
by
molecular
analysis
of
FGFR
3
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom