Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report.
[achondroplasia]
The
incidence
of
achondroplasia
is
very
low
,
and
the
birth
of
two
or
more
consecutive
babies
with
achondroplasia
to
unaffected
parents
is
a
rarity
.
We
report
a
rare
case
of
recurrent
achondroplasia
in
babies
of
unaffected
parents
.
A
29
-
year
-old
Nigerian
Igbo
woman
who
has
had
three
consecutive
dead
achondroplastic
babies
presented
at
a
gestational
age
of
31
 
weeks
with
a
two
-
hour
history
of
drainage
of
liquor
and
vaginal
bleeding
.
Neither
she
nor
her
husband
had
features
of
achondroplasia
.
Fundal
height
was
compatible
with
the
gestational
age
.
Fetal
heart
activity
was
present
.
An
abdominal
ultrasound
examination
showed
a
viable
fetus
with
short
long
bones
,
oligohydramnios
,
and
a
fundal
placenta
with
a
small
retroplacental
blood
clot
.
Our
patient
was
stabilized
and
had
an
emergency
Cesarean
section
for
grade
1
abruptio
placentae
.
A
live
male
baby
with
Apgar
scores
of
4
at
one
minute
and
5
at
10
minutes
was
delivered
.
The
baby
had
classic
features
of
achondroplasia
and
died
shortly
after
birth
.
To
the
best
of
our
knowledge
,
this
is
the
first
reported
case
of
recurrent
achondroplasia
in
siblings
of
unaffected
parents
in
Nigeria
.
Management
is
challenging
,
and
the
outcomes
of
future
pregnancies
appear
bleak
.
However
,
proper
counseling
and
follow-up
are
needed
.
There
is
also
a
need
to
establish
preconception
clinics
and
facilities
for
prenatal
genetic
diagnosis
and
gene
therapy
in
developing
countries
.
Diseases
Validation
Diseases presenting
"heart activity"
symptom
achondroplasia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
