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A random Abstract
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Identical twins with Cohen syndrome.
[cohen syndrome]
We
report
the
first
case
of
identical
female
twins
who
satisfy
the
proposed
diagnostic
criteria
for
Cohen
syndrome
.
The
sisters
presented
with
retinal
degeneration
,
obesity
and
mental
retardation
,
and
had
the
characteristic
facial
appearance
.
The
manifestations
of
previously
reported
cases
of
Cohen
syndrome
are
reviewed
.
Unusual
changes
in
our
patients
include
tall
stature
,
macrocephaly
,
and
transient
cardiomyopathy
during
the
first
year
of
life
.
These
anomalies
have
been
reported
previously
in
other
patients
with
Cohen
syndrome
,
and
suggest
that
the
disorder
is
phenotypically
heterogeneous
.
Precocious
puberty
was
present
in
both
girls
;
the
latter
findings
have
not
been
reported
previously
in
the
Cohen
syndrome
.
Detailed
metabolic
and
cytogenetic
analysis
demonstrated
no
abnormalities
.