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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
"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