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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
"marfanoid habitus"
symptom
cohen syndrome
This symptom has already been validated