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Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography.
[oligodontia]
Purpose
:
Hypohidrotic
ectodermal
dysplasia
,
a
potentially
life-threatening
heritable
disorder
,
may
be
recognized
already
in
utero
by
characteristic
features
such
as
oligodontia
and
mandibular
hypoplasia
.
As
therapeutic
options
and
prognosis
depend
on
the
time
point
of
diagnosis
,
early
recognition
was
attempted
during
routine
prenatal
ultrasound
examinations
.
Subjects
and
Methods
:
Fetuses
of
nine
pregnant
women
(
one
triplet
and
eight
singleton
pregnancies
)
with
family
histories
of
hypohidrotic
ectodermal
dysplasia
were
investigated
by
sonography
between
the
20
th
and
24
th
week
of
gestation
.
Results
:
In
4
male
and
2
female
fetuses
reduced
amounts
of
tooth
germs
were
detected
,
whereas
5
fetal
subjects
showed
the
normal
amount
.
Three
-dimensional
ultrasound
evaluation
revealed
mandibular
hypoplasia
in
5
of
the
6
fetuses
with
oligodontia
.
Molecular
genetic
analysis
and
/
or
clinical
findings
after
birth
confirmed
the
prenatal
sonographic
diagnosis
in
each
subject
.
Conclusion
:
In
subjects
with
a
family
history
of
hypohidrotic
ectodermal
dysplasia
,
the
diagnosis
of
this
rare
condition
can
be
established
noninvasively
by
sonography
in
the
second
trimester
of
pregnancy
.
Early
recognition
of
the
disorder
may
help
to
prevent
dangerous
hyperthermic
episodes
in
infancy
and
may
allow
timely
therapeutic
interventions
.
Diseases
Validation
Diseases presenting
"early recognition"
symptom
22q11.2 deletion syndrome
cadasil
child syndrome
cowden syndrome
cushing syndrome
cystinuria
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kindler syndrome
legionellosis
oligodontia
omenn syndrome
pyomyositis
thoracic outlet syndrome
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