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1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.
[wolf-hirschhorn syndrome]
Several
Wolf-
Hirschhorn
syndrome
patients
have
been
studied
,
mouse
models
for
a
few
candidate
genes
have
been
constructed
and
two
WHS
critical
regions
have
been
postulated
,
but
the
molecular
basis
of
the
syndrome
remains
poorly
understood
.
Single
gene
contributions
to
phenotypes
of
microdeletion
syndromes
have
often
been
based
on
the
study
of
patients
carrying
small
,
atypical
deletions
.
We
report
a
5
-
year
-old
girl
harboring
an
atypical
1
.
5
Mb
del
4
p
16
.
3
and
review
seven
previously
published
patients
carrying
a
similar
deletion
.
They
show
a
variable
clinical
presentation
and
the
only
consistent
feature
is
post-
natal
growth
delay
.
However
,
four
of
eight
patients
carry
a
ring
(
4
)
,
and
ring
chromosomes
in
general
are
associated
with
growth
deficiency
.
The
Greek
helmet
profile
is
absent
,
although
a
trend
towards
common
dysmorphic
features
exists
.
Variable
expressivity
and
incomplete
penetrance
might
play
a
role
in
WHS
,
resulting
in
difficult
clinical
diagnosis
and
challenge
in
understanding
of
the
genotype
/
phenotype
correlation
.
Diseases
Validation
Diseases presenting
"incomplete penetrance"
symptom
benign recurrent intrahepatic cholestasis
cowden syndrome
cystinuria
kallmann syndrome
sneddon syndrome
wolf-hirschhorn syndrome
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