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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
"hypothyroidism"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aromatase deficiency
congenital adrenal hyperplasia
cowden syndrome
cushing syndrome
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
inclusion body myositis
kallmann syndrome
pendred syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated