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Metabolic syndrome manifestations in Cohen syndrome: description of two new patients.
[cohen syndrome]
We
report
on
sporadic
cases
that
have
the
proposed
diagnostic
criteria
for
Cohen
syndrome
associated
with
metabolic
syndrome
.
The
patients
,
aged
14
and
16
years
,
had
truncal
obesity
,
mild
mental
retardation
,
hypotonia
,
narrow
hands
and
feet
,
a
high-arched
palate
,
prominent
upper
central
incisors
,
a
high
nasal
bridge
,
and
ocular
abnormalities
.
Both
had
impaired
glucose
tolerance
,
with
marked
hyperinsulinemia
exhibited
by
an
oral
glucose
tolerance
test
.
Moreover
,
they
had
the
other
metabolic
syndrome
features
of
hyperlipidemia
and
hypertension
.
We
suggest
that
it
is
necessary
to
consider
the
possibility
of
metabolic
syndrome
in
a
case
of
Cohen
syndrome
.
Diseases
Validation
Diseases presenting
"hyperlipidemia"
symptom
aromatase deficiency
cadasil
cohen syndrome
congenital adrenal hyperplasia
inclusion body myositis
lamellar ichthyosis
lymphangioleiomyomatosis
This symptom has already been validated