Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome.
[cohen syndrome]
Since
its
original
description
(
2
)
,
many
new
cases
of
Cohen
syndrome
have
been
reported
,
most
of
them
showing
a
quite
variable
expressivity
.
Autosomal
recessive
inheritance
is
widely
accepted
(
MIM
:
216550
)
(
11
)
,
however
,
multiple
instances
of
sporadic
cases
are
observed
.
From
a
literature
review
(
52
cases
)
,
we
could
determinate
,
in
order
of
frequency
,
the
most
important
clinical
traits
of
the
Cohen
syndrome
.
We
report
here
a
father
and
two
sons
with
dysmorphic
features
resembling
Cohen
syndrome
and
transmitting
by
an
autosomal
dominant
mode
.
Diseases
Validation
Diseases presenting
"multiple instances"
symptom
cohen syndrome
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