Rare Diseases Symptoms Automatic Extraction
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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
"osteopenia"
symptom
achondroplasia
aromatase deficiency
benign recurrent intrahepatic cholestasis
child syndrome
coats disease
cutaneous mastocytosis
dentin dysplasia
dentinogenesis imperfecta
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
This symptom has already been validated