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Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.
[neuralgic amyotrophy]
We
report
a
family
in
which
two
siblings
presented
with
an
apparent
dysmorphic
syndrome
,
including
hypotelorism
,
blepharophimosis
,
slight
ptosis
,
epicanthal
folds
,
microstomia
and
dysmorphic
ears
.
One
sibling
had
a
cleft
palate
.
Initially
,
blepharophimosis
,
ptosis
,
and
epicanthus
inversus
syndrome
(
BPES
)
was
suspected
;
however
,
mutation
of
the
FOXL
2
gene
was
not
detected
.
Moreover
,
the
patients
'
father
and
paternal
grandmother
had
experienced
recurrent
episodes
of
unilateral
brachial
neuritis
and
were
diagnosed
to
have
hereditary
neuralgic
amyotrophy
(
HNA
)
.
HNA
is
a
rare
,
inherited
form
of
brachial
neuritis
whose
phenotypic
spectrum
may
include
hypotelorism
,
cleft
palate
and
other
minor
dysmorphisms
.
HNA
maps
to
chromosome
17
q
25
and
is
associated
with
mutations
in
the
SEPT
9
gene
.
After
confirming
a
heterozygous
SEPT
9
mutation
(
R
88
W
)
in
the
father
and
his
mother
,
it
became
apparent
that
the
dysmorphic
features
in
the
children
were
part
of
HNA
and
that
previous
complaints
of
the
daughter
,
erroneously
diagnosed
as
pronatio
dolorosa
and
then
epiphysiolysis
of
the
capitellum
humeri
,
were
in
fact
a
first
neuralgic
pain
attack
.
Both
children
were
shown
to
have
inherited
the
paternal
SEPT
9
mutation
.
Wider
recognition
of
HNA
as
a
syndromic
disorder
may
facilitate
its
diagnosis
in
affected
young
persons
who
may
not
yet
have
manifested
episodes
of
brachial
neuritis
.
Diseases
Validation
Diseases presenting
"episodes of unilateral brachial neuritis"
symptom
neuralgic amyotrophy
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