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A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.
[congenital diaphragmatic hernia]
Nager
syndrome
,
or
acrofacial
dysostosis
type
1
(
AFD
1
)
,
is
a
rare
multiple
malformation
syndrome
characterized
by
hypoplasia
of
first
and
second
branchial
arches
derivatives
and
appendicular
anomalies
with
variable
involvement
of
the
radial
/
axial
ray
.
In
2012
,
AFD
1
has
been
associated
with
dominant
mutations
in
SF
3
B
4
.
We
report
a
22
-
week
-old
fetus
with
AFD
1
associated
with
diaphragmatic
hernia
due
to
a
previously
unreported
SF
3
B
4
mutation
(
c
.
35
-
2
A
>
G
)
.
Defective
diaphragmatic
development
is
a
rare
manifestation
in
AFD
1
as
it
is
described
in
only
2
previous
cases
,
with
molecular
confirmation
in
1
of
them
.
Our
molecular
finding
adds
a
novel
pathogenic
splicing
variant
to
the
SF
3
B
4
mutational
spectrum
and
contributes
to
defining
its
prenatal
/
fetal
phenotype
.