Rare Diseases Symptoms Automatic Extraction
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Cohen syndrome with acanthosis nigricans and insulin resistance.
[cohen syndrome]
Cohen
syndrome
is
a
rare
genetic
disorder
consisting
of
truncal
obesity
,
hypotonia
,
mental
retardation
,
microcephalia
,
characteristic
facial
appearance
and
ocular
anomalies
.
Other
diagnostic
clinical
features
include
narrow
hands
and
feet
,
low
growth
parameters
,
neutropenia
and
chorioretinal
dystrophy
.
Acanthosis
nigricans
is
a
cutaneous
disorder
characterized
by
hyperpigmentation
and
papillomatosis
.
Syndromal
acanthosis
nigricans
may
occasionally
appear
as
a
feature
of
several
specific
syndromes
.
We
report
a
patient
showing
the
typical
characteristics
of
Cohen
syndrome
with
acanthosis
nigricans
and
hyperinsulinemia
.
Diseases
Validation
Diseases presenting
"growth parameters"
symptom
classical phenylketonuria
cohen syndrome
homocystinuria without methylmalonic aciduria
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