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Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate.
[kabuki syndrome]
Cleft
lip
with
or
without
palate
(
CLP
)
can
be
diagnosed
antenatally
through
ultrasound
,
and
may
be
categorised
as
apparently
isolated
versus
associated
with
other
malformations
.
Limited
data
exist
on
the
long
-term
outcomes
following
antenatal
diagnosis
of
apparently
isolated
CLP
.
T
his
study
examined
the
long
-term
post-
natal
outcomes
of
CLP
when
found
in
isolation
antenatally
,
in
order
to
determine
the
rates
of
unexpected
additional
anomalies
,
developmental
delay
or
genetic
syndromes
.
A
retrospective
chart
review
of
antenatal
and
post-
natal
medical
charts
was
completed
for
a
ten
-
year
period
between
January
2000
and
December
2009
.
At
least
2
years
of
available
post-
natal
clinical
information
was
required
for
inclusion
in
the
study
.
A
total
of
97
cases
of
antenatally
isolated
CLP
were
ascertained
.
Fifteen
pregnancies
were
terminated
.
Follow-up
data
were
available
for
81
liveborns
,
though
4
were
lost
to
follow-up
prior
to
2
years
of
age
.
Twelve
of
the
77
children
meeting
study
criteria
were
identified
to
have
other
major
malformations
and
/
or
developmental
disability
either
later
in
the
pregnancy
or
post-natally
.
Findings
included
familial
clefting
syndromes
,
trisomy
21
,
autism
spectrum
disorders
,
brain
malformations
,
fetal
alcohol
syndrome
and
Kabuki
syndrome
,
among
other
findings
.
Another
11
children
had
additional
anomalies
of
minor
impact
.
Examples
of
findings
include
a
perimembranous
ventricular
septal
defect
,
mild
unilateral
optic
nerve
hypoplasia
,
mild
pulmonary
artery
stenosis
with
a
small
atrial
septal
defect
,
and
transient
delays
in
fine
and
gross
motor
skills
.
No
children
with
clefting
of
the
lip
only
had
major
additional
diagnoses
.
Diseases
Validation
Diseases presenting
"only had major additional diagnoses"
symptom
kabuki syndrome
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