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Ectodermal abnormalities in patients with Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
extensively
described
in
the
literature
and
characterized
by
a
typical
facial
gestalt
in
combination
with
postnatal
short
stature
,
hypotonia
,
joint
laxity
,
developmental
delay
,
persistent
fetal
fingertip
pads
,
and
an
ever-growing
group
of
congenital
abnormalities
.
In
this
study
,
we
focus
on
some
ectodermal
manifestations
that
we
have
observed
.
We
studied
seven
patients
who
fulfilled
the
clinical
criteria
for
KS
and
undertook
a
detailed
clinical
,
dental
,
cytogenetic
,
and
immunoglobulin
assessments
.
In
addition
,
microscopic
hair
examinations
were
performed
on
all
patients
and
compared
with
matched
control
patients
.
All
patients
had
receding
of
the
anterior
hair
line
,
but
five
had
evident
sparse
frontal
scalp
hair
.
They
all
showed
peculiar
similar
microscopic
hair
abnormalities
in
the
form
of
twisting
of
the
hair
shafts
,
irregularity
of
the
diameter
of
the
hair
,
and
trichorrhexis
nodosa
.
In
addition
,
hypoplastic
nails
,
café-
au
-lait
patches
,
and
missing
upper
lateral
incisors
were
observed
in
57
.
1
%
,
28
.
6
%
,
and
14
.
3
%
of
the
patients
,
respectively
.
Variable
orodental
anomalies
were
seen
in
all
the
patients
with
an
everted
lower
lip
found
in
four
patients
(
57
.
1
%
)
.
This
report
provides
further
evidence
that
some
cases
of
KS
have
ectodermal
involvement
.
Diseases
Validation
Diseases presenting
"matched control patients. all patients"
symptom
kabuki syndrome
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