Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Ocular findings in Brazilian identical twins with Cohen syndrome: case report.
[cohen syndrome]
A
case
of
identical
male
twins
with
Cohen
syndrome
who
present
multiple
ophthalmic
findings
is
reported
.
The
patients
were
identical
16
year
-old
twin
boys
who
showed
down
slanting
eyelids
,
mild
ptosis
,
high
-grade
myopia
,
small
cortical
lens
opacities
,
posterior
subcapsular
cataracts
,
myotic
and
corectopic
pupils
with
poor
dilation
due
to
focal
iris
atrophy
and
retinochoroidal
dystrophy
.
Ophthalmologists
must
be
aware
of
the
ocular
and
systemic
findings
of
Cohen
syndrome
in
the
evaluation
of
young
patients
with
mental
retardation
and
visual
impairment
.
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