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The Camera-Marugo-Cohen syndrome: report of two new patients.
[cohen syndrome]
This
report
describes
two
unrelated
patients
with
obesity
,
mental
retardation
,
body
asymmetry
,
and
muscle
weakness
.
Several
obesity
syndromes
with
common
characteristics
have
been
described
.
Findings
in
our
patients
,
in
addition
to
those
of
the
previously
reported
cases
,
include
body
asymmetry
,
characteristic
physiognomy
,
lordosis
,
and
typical
anomalies
of
hands
and
feet
.
These
physical
manifestations
correspond
to
the
Camera-
Marugo-
Cohen
syndrome
.
Our
patients
represent
the
second
and
third
cases
of
this
condition
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated