Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.
[wolf-hirschhorn syndrome]
Interstitial
deletion
of
the
short
arm
of
chromosome
4
,
excluding
cytoband
p
16
,
has
been
described
as
a
distinct
phenotype
from
the
Wolf-
Hirschhorn
syndrome
,
characterized
by
a
deletion
encompassing
cytoband
p
16
.
We
report
on
the
case
of
a
14
-
month
-old
boy
with
an
apparently
isolated
craniosynostosis
and
harboring
a
de
novo
microdeletion
in
band
4
p
15
.
The
imbalance
,
about
4
Mb
in
size
is
,
to
date
,
the
smallest
deletion
ever
described
in
this
region
,
encompassing
12
genes
.
A
comparison
with
other
previously
described
cases
of
4
p
15
deletion
is
made
,
and
the
possible
roles
of
some
genes
involved
in
the
deletion
are
discussed
.
Diseases
Validation
Diseases presenting
"craniosynostosis"
symptom
achondroplasia
congenital diaphragmatic hernia
dentin dysplasia
familial hypocalciuric hypercalcemia
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
proteus syndrome
wolf-hirschhorn syndrome
This symptom has already been validated
