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Multiple coagulation defects and the Cohen syndrome.
[cohen syndrome]
A
13
-
year
-old
male
presented
with
new
onset
seizures
,
sagittal
sinus
thrombosis
with
cerebral
hemorrhage
,
and
extensive
venous
thrombosis
of
the
lower
limbs
.
Laboratory
investigation
demonstrated
combined
deficiency
of
protein
C
,
protein
S
,
and
antithrombin
III
.
He
and
his
17
-
year
-old
sister
had
a
mental
retardation
-
multiple
anomaly
syndrome
associated
with
microcephaly
,
unusual
facies
,
and
lax
connective
tissue
.
Their
dysmorphology
included
elongated
faces
with
narrow
forehead
,
arched
eyebrows
,
large
mouth
with
down-turned
corners
,
malformed
teeth
,
and
furrowed
tongue
.
Both
had
Marfanoid
habitus
with
lax
joints
,
pectus
excavatum
,
kyphoscoliosis
,
and
flat
narrow
feet
.
The
most
likely
diagnosis
for
these
siblings
is
the
autosomal
recessive
Cohen
syndrome
of
mental
retardation
,
congenital
hypotonia
with
Marfanoid
habitus
,
microcephaly
,
pleasant
affect
,
micrognathia
,
and
open
mouth
with
prominent
incisors
.
The
sagittal
sinus
thrombosis
,
left
frontal
intracranial
hemorrhage
,
carotid
aneurysm
,
tortuous
descending
aorta
,
and
deep
venous
thrombosis
suffered
by
the
male
sibling
adds
the
Cohen
syndrome
to
genetic
vasculopathies
that
may
be
associated
with
stroke
.
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