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[Holt-Oram syndrome associated with facial anomalies. A case report].
[holt-oram syndrome]
Cardiomyelic
syndromes
have
skeletal
malformations
of
the
upper
limb
and
congenital
heart
disease
,
and
are
related
to
mutations
in
transcription
factors
with
T
-
Box
domains
.
Holt-
Oram
syndrome
is
characterized
by
upper
-extremity
malformations
involving
the
radial
,
thenar
,
or
carpal
bones
and
congenital
heart
defects
.
It
is
inherited
in
an
autosomal
dominant
manner
,
a
mutation
in
TBX
5
gene
located
on
chromosome
12
(
12
q
24
.
1
)
is
associated
with
variable
phenotypes
.
This
is
an
unusual
case
of
a
patient
with
Holt-
Oram
syndrome
associated
with
facial
anomalies
:
hemifacial
microsomia
on
the
right
side
,
forehead
prominent
and
tall
,
hypertelorism
,
depressed
nasal
bridge
,
low
set
ears
and
micrognathia
.
The
presentation
broadens
the
clinical
spectrum
with
delineation
of
facial
dysmorphic
features
.
Diseases
Validation
Diseases presenting
"forehead prominent and tall"
symptom
holt-oram syndrome
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