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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
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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