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Mortality in babies with achondroplasia: revisited.
[achondroplasia]
Natural
history
studies
performed
30
years
ago
identifying
higher
mortality
among
children
born
with
achondroplasia
,
a
genetic
dwarfing
condition
,
resulted
in
clinical
recommendations
aimed
at
improving
mortality
in
childhood
.
The
objective
of
this
study
was
to
determine
if
mortality
rates
have
changed
over
the
past
few
decades
.
Children
born
with
achondroplasia
during
1996
to
2003
were
ascertained
from
the
Texas
Birth
Defects
Registry
and
matched
with
death
certificate
data
from
the
Bureau
of
Vital
Statistics
through
2007
.
Infant
and
overall
mortality
rates
,
both
crude
and
standardized
to
the
2005
(
SMR
2005
)
and
1975
(
SMR
1975
)
U
.
S
.
populations
,
were
calculated
.
106
children
born
with
achondroplasia
were
identified
.
Four
deaths
were
reported
,
with
all
occurring
in
the
first
year
of
life
(
mortality
rate
:
41
.
4
/
1000
live-births
)
.
Infant
mortality
was
higher
when
standardized
to
the
2005
U
.
S
.
population
(
SMR
2005
:
6
.
02
,
95
%
CI
:
1
.
64
-
15
.
42
)
than
the
1975
population
(
SMR
1975
:
2
.
58
,
95
%
CI
:
0
.
70
-
6
.
61
)
.
The
higher
SMR
2005
compared
with
SMR
1975
,
along
with
the
fact
that
SMR
1975
was
nearly
half
that
of
a
previous
cohort
reported
25
years
ago
(
rate
ratio
:
0
.
53
,
95
%
CI
:
0
.
11
-
2
.
25
)
,
reflect
a
discrepancy
in
the
changes
in
mortality
in
the
overall
population
and
in
our
cohort
.
Although
an
overall
improvement
in
mortality
,
especially
after
the
first
year
of
life
,
is
observed
in
our
cohort
,
children
with
achondroplasia
are
still
at
a
much
higher
risk
of
death
compared
with
the
general
population
.
A
longer
follow-up
is
needed
to
elucidate
whether
evaluation
/
intervention
changes
have
resulted
in
significant
improvement
in
long
-term
survival
among
these
patients
.
Diseases
Validation
Diseases presenting
"first year"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
benign recurrent intrahepatic cholestasis
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lymphangioleiomyomatosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
phenylketonuria
pleomorphic liposarcoma
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
wolf-hirschhorn syndrome
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