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The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots.
[kabuki syndrome]
Niikawa-
Kuroki
syndrome
(
Kabuki
syndrome
)
is
a
multiple
congenital
anomaly
syndrome
of
unknown
etiology
with
a
very
wide
spectrum
of
abnormalities
and
severity
.
The
aim
of
this
paper
was
to
report
the
first
case
of
the
syndrome
in
Kazakhstan
associated
café
au
lait
.
Five
year
and
half
old
boy
from
Kazakhstan
(
Uzbek
-of
Turk
ethnicity
)
presented
with
dysmorphic
facial
features
(
long
palpebral
fissures
,
a
broad
and
depressed
nasal
tip
,
large
prominent
earlobes
,
small
head
,
epicanthic
folds
short
stature
,
delayed
language
development
,
hypotonia
,
bilateral
developmental
dysplasia
of
the
hip
(
DDH
)
,
large
ears
and
triangular
chin
,
café
au
lait
spots
.
The
clinical
diagnosis
was
based
on
the
triad
of
characteristic
facial
abnormalities
(
long
palpebral
fissures
,
a
broad
and
depressed
nasal
tip
,
large
prominent
earlobes
,
small
head
)
,
growth
retardation
,
(
DDH
)
.
In
this
paper
the
authors
report
the
first
case
of
Kabuki
syndrome
associated
with
café
au
lait
spots
.
Diseases
Validation
Diseases presenting
"growth retardation"
symptom
achondroplasia
alpha-thalassemia
aromatase deficiency
cystinuria
dentin dysplasia
dentinogenesis imperfecta
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
pyruvate dehydrogenase deficiency
triple a syndrome
werner syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated