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A random Abstract
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Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?
[coats disease]
The
association
of
Coats
disease
with
intrauterine
growth
retardation
,
intracranial
calcification
,
leukodystrophy
,
brain
cysts
,
osteopenia
,
and
gastrointestinal
bleeding
defines
Coats
plus
syndrome
caused
by
mutations
in
the
CTC
1
gene
,
encoding
conserved
telomere
maintenance
component
1
.
Here
,
we
report
on
a
child
with
exudative
retinopathy
,
cerebral
calcifications
,
duodenal
atresia
,
preaxial
polydactyly
,
micropenis
,
microcephaly
,
and
short
stature
,
in
whom
no
mutations
in
CTC
1
were
found
.
Our
patient
shares
some
features
seen
in
other
diseases
associated
with
telomere
shortening
including
Hoyeraal-
Hreidarsson
and
Revesz
syndromes
.
We
therefore
measured
telomere
length
by
Flow-
Fish
which
was
normal
.
The
association
of
duodenal
atresia
and
microcephaly
also
suggested
a
diagnosis
of
Feingold
syndrome
.
However
,
direct
sequencing
of
MYCN
was
normal
,
and
we
did
not
detect
any
hemizygous
deletion
of
the
miR-
17
∼
92
polycistronic
miRNA
cluster
.
To
our
knowledge
,
the
phenotype
we
report
on
has
not
been
described
previously
,
leading
us
to
speculate
that
this
condition
may
represent
a
new
syndrome
.
Diseases
Validation
Diseases presenting
"short stature"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
cowden syndrome
dentin dysplasia
dentinogenesis imperfecta
fabry disease
hirschsprung disease
holt-oram syndrome
kabuki syndrome
kallmann syndrome
kindler syndrome
monosomy 21
oculocutaneous albinism
oligodontia
omenn syndrome
proteus syndrome
werner syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated