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Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.
[oculocutaneous albinism]
We
describe
five
patients
from
three
different
families
with
microcephalic
osteodysplastic
primordial
dwarfism
type
I
(
MOPD
I
)
,
which
was
molecularly
confirmed
by
homozygosity
for
the
g
.
51
G
>
A
and
g
.
55
G
>
A
mutations
in
RNU
4
ATAC
,
respectively
.
The
patients
showed
the
classical
phenotype
and
demonstrated
in
addition
variable
degrees
of
gyration
abnormalities
and
malformations
of
the
callosal
body
with
an
interhemispheric
cyst
.
One
patient
also
showed
underdevelopment
of
the
cerebellar
vermis
.
This
confirms
that
cortical
malformations
should
be
considered
cardinal
manifestations
of
MOPD
I
.
Oculocutaneous
albinism
,
brain
hemorrhage
and
chilblains
have
been
found
to
be
associated
with
MOPD
I
.
The
present
study
showed
lack
of
retinal
pigmentation
in
three
patients
of
whom
two
had
an
unusually
fair
complexion
of
hair
and
skin
.
One
patient
was
found
to
have
a
hematoma
in
the
left
thalamus
.
This
may
indicate
that
both
pigmentary
abnormalities
and
vascular
anomalies
may
be
part
of
the
phenotype
of
MOPD
I
as
well
.
Diseases
Validation
Diseases presenting
"respectively"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
kallmann syndrome
lamellar ichthyosis
liposarcoma
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
triple a syndrome
von hippel-lindau disease
well-differentiated liposarcoma
wolf-hirschhorn syndrome
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