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Congenital corneal staphyloma as a complication of Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
has
long
been
clinically
defined
based
mainly
on
its
characteristic
eye
features
.
The
recent
discovery
of
MLL
2
as
a
causative
gene
of
Kabuki
syndrome
has
enabled
the
extreme
end
of
the
phenotype
to
be
explored
.
We
herein
report
on
two
patients
with
striking
visible
congenital
staphyloma
at
birth
.
A
diagnosis
of
Kabuki
syndrome
was
subsequently
made
in
both
patients
based
on
a
constellation
of
characteristic
eye
features
,
cardiac
abnormalities
and
severe
developmental
delay
,
and
finally
by
the
confirmation
of
MLL
2
mutations
.
In
conclusion
,
congenital
corneal
staphyloma
is
a
complication
of
Kabuki
syndrome
with
MLL
2
mutations
.
Diseases
Validation
Diseases presenting
"cardiac abnormalities and severe developmental delay"
symptom
kabuki syndrome
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