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Aggressive juvenile polyposis in children with chromosome 10q23 deletion.
[cowden syndrome]
Juvenile
polyps
are
relatively
common
findings
in
children
,
while
juvenile
polyposis
syndrome
(
JPS
)
is
a
rare
hereditary
syndrome
entailing
an
increased
risk
of
colorectal
cancer
.
Mutations
in
BMPR
1
A
or
SMAD
4
are
found
in
roughly
half
of
patients
diagnosed
with
JPS
.
Mutations
in
PTEN
gene
are
also
found
in
patients
with
juvenile
polyps
and
in
Bannayan-
Riley
-
Ruvalcaba
syndrome
and
Cowden
syndrome
.
Several
previous
reports
have
described
microdeletions
in
chromosome
10
q
23
encompassing
both
PTEN
and
BMPR
1
A
causing
aggressive
polyposis
and
malignancy
in
childhood
.
These
reports
have
also
described
extra
-
intestinal
findings
in
most
cases
including
cardiac
anomalies
,
developmental
delay
and
macrocephaly
.
In
this
report
we
describe
a
boy
with
a
5
.
75
Mb
deletion
of
chromosome
10
q
23
and
a
1
.
03
Mb
deletion
within
chromosome
band
1
p
31
.
3
who
displayed
aggressive
juvenile
polyposis
and
multiple
extra
-
intestinal
anomalies
including
macrocephaly
,
developmental
delay
,
short
stature
,
hypothyroidism
,
atrial
septal
defect
,
ventricular
septal
defect
and
hypospadias
.
He
required
colectomy
at
six
years
of
age
,
and
early
colectomy
was
a
common
outcome
in
other
children
with
similar
deletions
.
Due
to
the
aggressive
polyposis
and
reports
of
dysplasia
and
even
malignancy
at
a
young
age
,
we
propose
aggressive
gastrointestinal
surveillance
in
children
with
10
q
23
microdeletions
encompassing
the
BMPR
1
A
and
PTEN
genes
to
include
both
the
upper
and
lower
gastrointestinal
tracts
,
and
also
include
a
flowchart
for
an
effective
genetic
testing
strategy
in
children
with
juvenile
polyposis
.
Diseases
Validation
Diseases presenting
"developmental delay and macrocephaly"
symptom
cowden syndrome
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