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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
"neonatal period"
symptom
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cutaneous mastocytosis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
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