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[MCA/MR anomaly--case report].
[cohen syndrome]
MCA
/
MR
(
Cohen
syndrome
)
is
a
multiple
congenital
anomalies
retardation
syndrome
with
autosomal
recessive
inheritance
.
The
clinical
criteria
are
nonspecific
.
The
diagnosis
was
based
on
the
triad
:
hypotonia
,
truncal
obesity
and
prominent
central
incisors
.
Added
to
the
clinical
spectrum
ophthalmologic
findings
such
as
antymongoloid
eye
slant
and
retinal
changes
,
are
very
important
to
diagnosis
.
The
authors
present
a
case
of
11
-
year
-old
boy
with
MCA
/
MR
.
In
this
patient
we
found
decreased
visual
acuity
,
myopia
and
retinal
abnormalities
.
Cohen
syndrome
is
a
congenital
anomaly
with
general
and
ophthalmological
findings
.
Diseases
Validation
Diseases presenting
"decreased visual acuity, myopia and retinal abnormalities"
symptom
cohen syndrome
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