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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
.
Diseases
Validation
Diseases presenting
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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