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A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.
[wolf-hirschhorn syndrome]
Wolf
-
Hirschhorn
Syndrome
(
WHS
)
is
a
genetic
syndrome
that
includes
a
typical
facial
appearance
,
mental
retardation
,
growth
delay
,
seizures
,
and
congenital
cardiac
defects
.
A
deletion
of
the
terminal
band
of
the
short
arm
of
chromosome
4
,
with
a
breakpoint
at
the
4
p
15
to
4
p
16
region
,
is
the
most
common
genetic
mutation
causing
WHS
.
Congenital
heart
disease
associated
with
WHS
typically
includes
atrial
and
ventricular
septal
defects
,
though
there
are
a
few
case
reports
of
associated
complex
congenital
heart
disease
.
Here
we
report
a
case
of
an
infant
with
a
large
4
p
deletion
,
with
a
breakpoint
at
the
4
p
12
region
,
and
hypoplasic
left
heart
syndrome
.
We
discuss
a
possible
link
between
the
size
of
the
chromosomal
deletion
in
WHS
and
the
severity
of
the
cardiac
defect
.
