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Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.
[gm1 gangliosidosis]
Chondrodysplasia
punctata
(
CDP
)
is
a
rare
,
heterogeneous
congenital
skeletal
dysplasia
,
characterized
by
punctate
or
dot-like
calcium
deposits
in
cartilage
observed
on
neonatal
radiograms
.
A
number
of
inborn
metabolic
diseases
are
associated
with
CDP
,
including
peroxisomal
and
cholesterol
biosynthesis
dysfunction
and
other
inborn
errors
of
metabolism
such
as
:
mucolipidosis
type
II
,
mucopolysacharidosis
type
III
,
GM
1
gangliosidosis
.
CDP
is
also
related
to
disruption
of
vitamin
K-
dependent
metabolism
,
causing
secondary
effects
on
the
embryo
,
as
well
as
fetal
alcohol
syndrome
(
FAS
)
,
chromosomal
abnormalities
that
include
trisomies
18
and
21
,
Turner
syndrome
.
This
article
presents
clinical
data
and
diagnostic
imaging
findings
of
two
newborn
babies
with
chondrodysplasia
punctata
.
Children
presented
with
skeletal
and
cartilage
anomalies
,
dysmorphic
facial
feature
,
muscles
tone
abnormalities
,
skin
changes
and
breathing
difficulties
.
One
of
the
patients
demonstrated
critical
stenosis
of
spinal
canal
with
anterior
subluxation
of
C
1
vertebra
relative
to
C
2
.
The
aim
of
this
article
is
to
present
cases
and
briefly
describe
current
knowledge
on
etiopathogenesis
as
well
as
radiological
and
clinical
symptoms
of
diseases
coexisting
with
CDP
.
R
adiological
diagnostic
imaging
allows
for
visualization
of
punctate
focal
mineralization
in
bone
epiphyses
during
neonatal
age
and
infancy
.
Determining
the
etiology
of
chondrodysplasia
punctata
requires
performing
various
basic
as
well
as
additional
examinations
,
including
genetic
studies
.
Diseases
Validation
Diseases presenting
"including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as"
symptom
gm1 gangliosidosis
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