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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
.
