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Phenotypic findings in Chinese families with X-linked hypohydrotic ectodermal dysplasia.
[oligodontia]
To
summarize
the
phenotypic
characters
of
Chinese
X-
linked
hypohidrotic
ectodermal
dysplasia
(
XLHED
)
subjects
.
Twelve
affected
and
24
carriers
from
seven
Chinese
pedigrees
were
recruited
.
The
development
of
their
hair
,
tooth
,
skin
and
sweat
gland
was
(
semi-
)
quantitatively
evaluated
.
From
100
to
250
normal
controls
were
used
to
exclude
polymorphisms
in
each
family
.
Different
from
the
previous
reports
,
these
Chinese
subjects
had
more
symmetrical
and
severe
oligodontia
.
The
mean
number
of
permanent
teeth
missing
was
23
.
5
,
and
mandibular
molars
were
preferentially
affected
.
Compared
to
the
age-
and
gender-matching
controls
,
the
affected
had
evident
deep
and
well-defined
facial
wrinkles
especially
in
the
forehead
,
periorbital
and
cheek
.
Missing
anterior
teeth
,
conical
canines
and
slow
growth
of
hair
were
the
main
findings
of
female
carriers
.
In
addition
,
there
was
no
evident
relationship
between
phenotype
and
genotype
.
To
the
best
of
our
knowledge
,
this
was
the
first
semi-quantitative
phenotypic
report
of
subjects
of
Chinese
descent
.
Diseases
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Diseases presenting
"first semi-quantitative phenotypic report"
symptom
oligodontia
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