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A random Abstract
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Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.
[kabuki syndrome]
We
present
a
case
of
a
9
-
month
-old
Hispanic
female
with
Kabuki
syndrome
with
some
infrequent
manifestations
including
a
single
umbilical
artery
,
butterfly
vertebrae
,
a
small
larynx
,
a
preauricular
pit
,
microtia
with
internal
ear
abnormalities
,
abnormal
calcium
metabolism
,
premature
thelarche
,
neonatal
/
persistent
hypoglycemia
and
eventration
of
the
diaphragm
.
She
was
found
to
have
a
previously
unreported
nonsense
MLL
2
mutation
.
This
is
the
first
case
that
includes
all
such
findings
occurring
simultaneously
that
was
genotyped
.