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CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.
[child syndrome]
CHILD
syndrome
(
congenital
hemidysplasia
with
ichthyosiform
nevus
and
limb
defects
,
Online
Mendelian
Inheritance
in
Man
308050
)
is
an
X-
linked
dominant
trait
with
lethality
for
male
embryos
.
The
disorder
is
caused
by
mutations
in
NSDHL
(
Online
Mendelian
Inheritance
in
Man
300275
)
,
a
gene
playing
an
important
role
in
the
cholesterol
biosynthetic
pathway
.
Most
reports
deal
with
sporadic
cases
,
and
only
5
cases
of
mother-
to
-daughter
transmission
have
been
documented
.
We
present
here
a
family
with
mild
features
of
CHILD
syndrome
in
3
generations
.
Molecular
analysis
was
used
to
confirm
the
diagnosis
.
We
studied
14
members
of
a
family
with
CHILD
syndrome
.
The
23
-
year
-old
proposita
,
her
mother
,
2
aunts
,
and
her
grandmother
presented
with
mild
or
minimal
skin
lesions
that
had
been
present
since
infancy
.
Analysis
of
the
NSDHL
gene
showed
missense
mutation
c
.
370
G--
>
A
in
these
5
patients
.
This
mutation
was
absent
in
the
9
clinically
unaffected
family
members
tested
.
In
this
family
,
we
recognized
CHILD
syndrome
with
mild
or
minimal
features
in
3
generations
because
we
were
able
to
verify
our
clinical
diagnosis
by
means
of
molecular
analysis
.
We
assume
that
many
cases
that
so
far
have
been
considered
sporadic
may
in
fact
be
familial
when
a
meticulous
physical
examination
of
female
family
members
is
combined
with
molecular
testing
.
Diseases
Validation
Diseases presenting
"limb defects"
symptom
child syndrome
holt-oram syndrome
kallmann syndrome
proteus syndrome
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