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Cohen syndrome: two new cases in siblings.
[cohen syndrome]
Cohen
syndrome
is
a
rare
genetic
disorder
consisting
of
truncal
obesity
,
hypotonia
,
mental
retardation
,
characteristic
facial
appearance
and
ocular
anomalies
.
Other
diagnostic
clinical
features
include
narrow
hands
and
feet
,
low
growth
parameters
,
neutropenia
and
chorioretinal
dystrophy
.
We
describe
the
similarities
in
the
clinical
and
developmental
profile
of
two
siblings
with
Cohen
syndrome
,
providing
evidence
for
autosomal
recessive
inheritance
in
this
condition
.
The
diagnosis
of
Cohen
syndrome
should
be
suspected
in
mentally
retarded
children
with
the
above
characteristics
.
Neutropenia
and
ocular
anomalies
with
high
-grade
myopia
and
chorioretinal
dystrophy
are
also
considered
important
findings
and
can
aid
in
the
clinical
diagnosis
especially
at
an
early
age
.
Diseases
Validation
Diseases presenting
"feet"
symptom
adrenal incidentaloma
cohen syndrome
harlequin ichthyosis
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