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Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling.
[dentin dysplasia]
Oculodentodigital
dysplasia
is
an
extremely
rare
autosomal
dominant
pleiotropic
disorder
caused
by
mutations
in
the
Connexin
43
gene
(
GJA
1
)
.
Described
here
is
a
previously
undiagnosed
case
of
an
8
-
year
-old
boy
with
enamel
and
dentin
hypoplasia
and
typical
faces
.
In
this
presentation
,
many
typical
clinical
and
radiographical
features
of
this
condition
are
present
.
The
characteristic
features
include
a
typical
face
,
premature
loss
of
primary
teeth
and
odontodysplasia
of
permanent
teeth
,
clinodactyly
,
ocular
signs
,
and
CNS
involvement
.
To
our
knowledge
,
the
case
that
we
report
here
is
the
first
case
with
mamelon-shaped
tip
of
the
tongue
and
enlarged
midpalatal
raphe
.
Diseases
Validation
Diseases presenting
"previously undiagnosed case"
symptom
dentin dysplasia
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