Rare Diseases Symptoms Automatic Extraction
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Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.
[child syndrome]
X-
linked
dominant
chondrodysplasia
punctata
(
Conradi-
Hünermann
disease
,
CDPX
2
)
is
characterised
by
short
stature
,
stippled
epiphyses
,
cataracts
,
ichthyosiform
erythroderma
and
patchy
alopecia
of
the
scalp
.
The
disorder
is
caused
by
mutations
within
the
emopamil
binding
protein
(
EBP
)
gene
encoding
a
3
beta
-hydroxysteroid-
Delta
(
8
)
,
Delta
(
7
)
-
isomerase
.
The
intrafamilial
variation
of
disease
severity
is
a
known
feature
of
CDPX
2
probably
caused
by
skewed
X-
inactivation
.
We
report
on
a
female
fetus
with
typical
symptoms
of
CDPX
2
such
as
short
limbs
,
postaxial
polydactyly
,
ichthyotic
skin
lesions
and
punctate
calcifications
.
Molecular
genetic
analysis
of
the
EBP
gene
revealed
a
nonsense
mutation
(
c
.
328
C
>
T
,
p
.
R
110
X
)
,
which
was
previously
detected
in
one
CDPX
2
patient
and
in
a
second
female
patient
,
who
was
only
affected
on
one
body
side
and
erroneously
diagnosed
as
CHILD
syndrome
.
Surprisingly
,
the
mother
of
our
fetus
carries
the
same
mutation
without
having
any
signs
of
CDPX
2
.
X-
inactivation
studies
did
not
reveal
any
evidence
of
skewing
neither
in
the
mother
nor
in
the
fetus
.
Diseases
Validation
Diseases presenting
"who was only affected on one body side and erroneously diagnosed as child syndrome"
symptom
child syndrome
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