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Holt-Oram syndrome associated with anomalies of the feet.
[holt-oram syndrome]
Holt-
Oram
syndrome
(
HOS
)
(
OMIM
142900
)
is
characterized
by
upper
-extremity
malformations
involving
the
radial
,
thenar
,
or
carpal
bones
and
a
personal
and
/
or
family
history
of
congenital
heart
defects
(
CHDs
)
.
It
is
inherited
in
an
autosomal
dominant
manner
.
The
TBX
5
gene
located
on
chromosome
12
(
12
q
24
.
1
)
is
the
only
gene
currently
known
to
be
associated
with
HOS
and
is
associated
with
variable
phenotypes
.
We
report
on
the
clinical
and
molecular
characterization
of
a
HOS
family
with
three
affected
individuals
and
a
novel
mutation
(
Lys
88
ter
)
.
We
discuss
genotype-phenotype
correlations
,
the
presence
of
foot
anomalies
in
one
affected
individual
,
and
the
role
of
atypical
features
in
HOS
differential
diagnosis
.