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[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].
[kabuki syndrome]
An
8
-
year
-old
boy
showed
multiple
cardiovascular
and
urinogenital
anomalies
,
neurological
problems
as
well
as
endocrinological
abnormalities
even
shortly
after
birth
.
The
patient
had
ophthalmological
peculiarities
,
such
as
eyelid
cleft
configuration
,
tapetoretinal
dystrophy
,
retinal
visual
atrophy
,
early
childhood
converging
strabismus
with
varying
angle
relationships
,
nystagmus
,
light
sensitivity
and
substantial
visual
deficits
.
Finally
a
Kabuki
syndrome
could
be
confirmed
by
human
genetic
investigations
(
8
q
22
-
23
triplication
)
.
Diseases
Validation
Diseases presenting
"early childhood converging strabismus with varying angle relationships"
symptom
kabuki syndrome
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