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Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report.
[homocystinuria without methylmalonic aciduria]
Combined
methylmalonic
aciduria
and
homocystinuria
(
MMA-HC
)
is
a
rare
metabolic
disease
characterized
by
an
inborn
defect
in
B
12
vitamin
metabolism
.
This
case
report
concerns
an
11
-
year
-old
patient
with
MMA-HC
,
which
developed
during
the
neonatal
period
.
The
patient
shows
some
of
the
facial
features
that
were
already
reported
in
the
literature
(
high
forehead
,
large
floppy
,
low-set
ears
,
flat
philtrum
and
hypotonia
of
perioral
and
masticatory
muscles
)
but
no
dolichocephalic
skull
nor
long
face
.
The
patient
also
shows
signs
that
had
not
been
previously
described
:
epicanthal
folds
,
broad
nasal
bridge
,
long
and
flat
philtrum
,
amimic
expression
and
,
particularly
,
a
postural
alteration
(
the
head
is
rotated
and
bent
towards
the
left
shoulder
,
which
is
lower
than
the
right
one
)
.
Such
alteration
can
be
attributed
to
visual
impairment
and
is
responsible
for
breaking
muscular
and
skeletal
balance
in
the
frontal
plane
,
thus
causing
the
horizontal
planes
of
both
maxillary
bones
to
converge
towards
the
right
--
as
highlighted
by
the
cephalometric
analysis
of
the
Teleradio-graph
of
the
skull
in
Posteroanterior
projection
according
to
Ricketts
.
As
for
the
patient
's
teeth
,
eruption
times
are
normal
,
but
there
are
anomalies
of
shape
(
chisel-like
central
incisors
)
.
As
far
as
dental
caries
is
concerned
,
the
patient
's
DMFT
is
4
(
D
=
4
,
M
=
0
,
F
=
0
)
.
This
clinical
case
highlights
the
need
for
dental
prevention
programs
suggested
by
the
pediatrician
once
the
pathology
is
diagnosed
.
Diseases
Validation
Diseases presenting
"facial features"
symptom
22q11.2 deletion syndrome
alpha-thalassemia
cadasil
cohen syndrome
dentinogenesis imperfecta
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
monosomy 21
neuralgic amyotrophy
severe combined immunodeficiency
triple a syndrome
wolf-hirschhorn syndrome
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