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Congenital malformations of the hand and forearm in children: what radiologists should know.
[holt-oram syndrome]
Congenital
upper
limb
malformations
represent
complex
pathologies
because
of
their
varied
clinical
presentations
,
imaging
features
,
and
etiologies
.
They
can
be
divided
into
(
1
)
failure
of
formation
with
transverse
,
intercalary
,
and
longitudinal
(
preaxial
,
postaxial
,
and
mesoaxial
)
deficiencies
,
(
2
)
failure
of
differentiation
with
synostoses
,
carpal
coalitions
,
syndactylies
,
and
symphalangism
,
(
3
)
duplication
with
ulnar
dimelia
and
polydactylies
,
and
(
4
)
brachydactylies
.
Congenital
Madelung
's
deformity
,
clinodactyly
,
camptodactyly
,
and
Kirner
's
deformity
are
usually
included
in
these
malformations
.
Despite
advances
in
molecular
diagnosis
,
a
good
knowledge
of
clinical
and
imaging
features
as
well
as
special
consideration
of
other
skeletal
or
nonskeletal
abnormalities
are
essential
to
eventually
diagnose
an
embryo
fetopathy
(
maternal
valproate
treatment
,
constriction
band
syndrome
)
,
a
genetic
disorder
(
trisomy
21
or
Down
syndrome
,
Turner
's
syndrome
,
Holt-
Oram
syndrome
)
,
or
a
nongenetic
syndrome
(
vertebral
,
anal
,
cardiac
,
tracheal
,
esophageal
,
renal
,
limb
association
,
Poland
's
syndrome
)
.
Genetic
counseling
for
a
child
presenting
with
a
congenital
upper
limb
malformation
is
of
great
value
,
both
for
the
treating
team
and
the
parents
,
and
imaging
is
often
required
.
The
latter
is
still
largely
supported
by
conventional
radiography
,
both
for
diagnosis
and
functional
prognosis
,
but
ultrasound
and
magnetic
resonance
imaging
will
be
great
tools
in
the
near
future
to
better
evaluate
these
conditions
.
Diseases
Validation
Diseases presenting
"limb malformations"
symptom
holt-oram syndrome
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