Rare Diseases Symptoms Automatic Extraction
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Granulocytopenia in Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
an
autosomal
recessive
disorder
characterized
by
mental
retardation
,
microcephalia
and
typical
craniofacial
features
,
myopia
and
chorioretinal
dystrophy
.
As
some
patients
were
reported
to
have
leucopenia
,
we
collected
the
haematological
data
of
26
Finnish
Cohen
patients
.
They
all
had
experienced
periods
of
isolated
granulocytopenia
from
an
early
age
.
Granulocytopenia
was
mild
to
moderate
,
non-cyclic
and
never
fatal
.
Most
patients
suffered
from
prolonged
or
repeated
gingival
or
skin
infections
.
We
restudied
16
patients
.
Bone
marrow
examination
revealed
in
all
patients
a
normo-
or
hypercellular
marrow
,
with
a
left-shifted
granulopoiesis
in
8
/
16
patients
.
The
response
to
adrenaline
stimulation
was
subnormal
in
12
/
14
and
to
hydrocortisone
in
8
/
16
patients
,
but
administration
of
rhG-CSF
caused
granulocytosis
in
the
three
patients
studied
.
No
bone
marrow
malignancies
were
seen
.
Diseases
Validation
Diseases presenting
"myopia"
symptom
aniridia
coats disease
cohen syndrome
oculocutaneous albinism
proteus syndrome
This symptom has already been validated