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Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.
[oligodontia]
The
combination
of
lagophthalmia
,
euryblepharon
,
ectropion
of
lower
eyelids
,
distichiasis
,
bilateral
cleft
lip
and
palate
,
and
oligodontia
comprises
the
blepharo-cheilo-dontic
(
BCD
)
syndrome
.
This
combination
has
been
found
sporadically
or
with
positive
family
history
and
inherited
as
an
autosomal
dominant
condition
with
variable
expression
.
We
described
a
Saudi
boy
with
the
cardinal
signs
consistent
with
the
BCD
syndrome
.
In
addition
to
the
common
components
of
BCD
syndrome
that
involve
eyelids
,
lip
,
and
teeth
abnormalities
,
this
patient
is
the
third
reported
BCD
case
with
imperforate
anus
,
the
second
with
thyroid
agenesis
,
and
the
first
with
lumbosacral
meningomyelocele
.
Diseases
Validation
Diseases presenting
"bilateral cleft lip and palate"
symptom
oligodontia
This symptom has already been validated