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Mowat-Wilson syndrome: deafness in the first egyptian case who was conceived by intracytoplasmic sperm injection.
[hirschsprung disease]
Mowat-
Wilson
syndrome
is
a
genetic
disease
caused
by
heterozygous
mutations
or
deletions
of
the
zinc
finger
E
-
box-binding
homeobox
2
(
ZEB
2
)
gene
.
The
syndrome
is
characterized
by
typical
facial
features
,
moderate
-
to
-
severe
mental
retardation
,
epilepsy
and
variable
congenital
malformations
,
including
Hirschsprung
disease
,
genital
anomalies
,
congenital
heart
disease
,
agenesis
of
the
corpus
callosum
,
and
eye
defects
.
The
prevalence
of
Mowat-
Wilson
syndrome
is
currently
unknown
,
but
it
seems
that
Mowat-
Wilson
syndrome
is
underdiagnosed
,
particularly
in
patients
without
Hirschsprung
disease
.
We
report
here
the
first
Egyptian
case
of
Mowat-
Wilson
syndrome
who
was
conceived
by
intracytoplasmic
sperm
injection
.
The
patient
manifested
bilateral
sensorineural
hearing
loss
-a
new
feature
not
previously
reported
in
cases
of
Mowat-
Wilson
syndrome
.
This
report
describes
the
first
Egyptian
patient
of
Mowat-
Wilson
syndrome
who
was
conceived
after
intracytoplasmic
sperm
injection
,
and
provides
a
new
evidence
for
the
inclusion
of
deafness
among
the
congenital
defects
of
the
syndrome
.
Diseases
Validation
Diseases presenting
"loss-a new feature"
symptom
hirschsprung disease
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