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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
"first reported case"
symptom
achondroplasia
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
aniridia
cutaneous mastocytosis
dedifferentiated liposarcoma
epidermolysis bullosa simplex
fabry disease
focal myositis
harlequin ichthyosis
heparin-induced thrombocytopenia
kabuki syndrome
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
thoracic outlet syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
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