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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
"long-term outcomes"
symptom
acute rheumatic fever
alpha-thalassemia
aromatase deficiency
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
dystrophic epidermolysis bullosa
esophageal squamous cell carcinoma
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
lamellar ichthyosis
omenn syndrome
phenylketonuria
proteus syndrome
trochlear dysplasia
von hippel-lindau disease
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