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Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
a
rare
,
recessively
inherited
condition
associated
with
facial
dysmorphism
,
developmental
delay
,
and
visual
disability
.
A
delay
in
making
the
diagnosis
commonly
occurs
,
contributed
to
by
the
lack
of
a
definitive
molecular
test
and
the
clinical
variability
of
published
case
reports
.
A
specific
clinical
phenotype
has
been
delineated
in
a
homogeneous
cohort
of
Finnish
Cohen
syndrome
patients
,
but
the
applicability
of
their
diagnostic
criteria
to
non-
Finnish
patients
has
been
debated
.
Detailed
delineation
of
Cohen
syndrome
in
patients
from
outside
Finland
is
therefore
warranted
.
We
report
on
the
clinical
features
of
33
non-
Finnish
Cohen
syndrome
patients
.
Variability
within
the
clinical
spectrum
is
identified
and
the
natural
history
of
Cohen
syndrome
described
.
Diagnostic
guidelines
for
facilitating
accurate
and
early
diagnosis
are
discussed
.
Results
from
molecular
genetic
analysis
using
markers
located
within
the
previously
mapped
COH
1
critical
region
support
allelic
but
not
genetic
heterogeneity
in
this
UK
cohort
.