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Cleft hand in Kabuki make-up syndrome: case report.
[kabuki syndrome]
Kabuki
make-up
syndrome
(
KMS
)
is
a
multiple
malformation
/
mental
retardation
syndrome
that
was
first
described
in
Japan
but
is
now
reported
in
many
other
ethnic
groups
.
Kabuki
make-up
syndrome
is
characterized
by
multiple
congenital
abnormalities
:
craniofacial
,
skeletal
,
and
dermatoglyphic
abnormalities
;
mental
retardation
;
and
short
stature
.
Common
hand
anomalies
associated
with
KMS
include
persistent
fingertip
pad
,
brachydactyly
,
clinodactyly
,
and
lax
joints
.
We
report
a
patient
with
KMS
who
presented
with
cleft
hand
,
a
feature
that
has
not
yet
been
described
in
KMS
,
and
describe
the
potential
genetic
cause
.
Diseases
Validation
Diseases presenting
"multiple congenital abnormalities"
symptom
congenital adrenal hyperplasia
kabuki syndrome
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