Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The Cohen syndrome: report of a case.
[cohen syndrome]
We
report
on
a
sporadic
case
satisfied
with
a
proposed
diagnostic
criteria
for
Cohen
syndrome
.
This
10
year
-old
Japanese
boy
had
truncal
obesity
,
short
stature
,
mild
mental
retardation
,
hypotonia
,
maxillary
hypoplasia
,
micrognathia
,
narrow
hands
and
feet
,
high-arched
palate
,
prominent
upper
central
incisors
,
high
nasal
bridge
,
but
no
pigmentary
retinopathy
.
Autosomal
recessive
manner
of
inheritance
was
suggested
by
the
pedigree
.
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