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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
"cerebral calcifications"
symptom
coats disease
congenital toxoplasmosis
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