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Agenesis of the corpus callosum, camptodactyly and obesity.
[cohen syndrome]
We
report
a
16
-
year
-old
girl
with
agenesis
of
the
corpus
callosum
,
congenital
heart
disease
(
ventricular
septal
defect
and
abnormal
venous
return
)
,
5
th
digit
camptodactyly
and
obesity
,
born
to
first
cousin
Italian
parents
.
Although
this
child
shares
features
with
acrocallosal
syndrome
and
Camera-
Marugo-
Cohen
syndrome
,
we
think
that
this
combination
of
anomalies
allows
the
delineation
of
a
new
MCA
/
MR
syndrome
,
possibly
recessively
inherited
.
Diseases
Validation
Diseases presenting
"corpus callosum"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
gm1 gangliosidosis
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
krabbe disease
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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