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Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients.
[cohen syndrome]
Cohen
syndrome
(
Mendelian
Inheritance
in
Man
[
MIM
]
no
.
216550
)
is
a
rare
,
autosomal-recessive
inherited
disorder
with
mental
retardation
and
a
typical
appearance
.
The
condition
is
relatively
common
in
Finland
where
35
patients
have
been
diagnosed
.
We
studied
22
patients
in
detail
,
obtaining
anthropometric
measurements
of
the
head
and
face
,
and
cephalometric
radiographs
of
14
patients
(
14
-
57
years
of
age
)
.
Measurements
of
patients
were
compared
to
population
norms
and
matched
controls
.
Anthropometric
analysis
confirmed
and
quantified
the
previously
described
syndrome
features
:
small
head
size
[
-
4
standard
deviations
(
SD
)
]
,
with
varying
cephalic
index
.
Width
of
the
upper
face
was
close
to
normal
,
but
width
of
the
lower
face
was
small
.
Philtrum
length
was
shorter
than
in
healthy
controls
(
p
=
0
.
0039
in
females
and
p
=
0
.
0014
in
males
)
.
The
measurements
from
standardized
radiographs
revealed
short
cranial
base
dimensions
(
-
2
.
2
and
-
2
.
6
SD
)
,
but
normal
cranial
base
angles
.
Prognathism
of
jaws
was
within
normal
limits
.
Reduced
head
size
(
microcephaly
)
,
short
philtrum
and
small
cranial
base
dimensions
are
essential
features
in
Cohen
syndrome
.
In
addition
,
most
patients
had
forward-inclined
upper
incisors
and
maxillary
prognathia
.
We
conclude
that
exact
measurements
mostly
confirmed
the
Cohen
syndrome
description
based
previously
on
clinical
impression
.
Diseases
Validation
Diseases presenting
"small cranial base dimensions are essential features in cohen syndrome"
symptom
cohen syndrome
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