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[Holt-Oram syndrome: genetic counseling and diagnosis with prenatal ultrasonography].
[holt-oram syndrome]
Authors
report
the
cases
of
the
autosomal
dominant
Holt-
Oram
syndrome
encountered
during
genetic
counseling
in
the
authors
'
institution
between
1976
and
2005
.
A
male
patient
with
Holt-
Oram
syndrome
considered
the
50
%
risk
of
transmission
of
the
disease
too
high
,
thus
he
decided
against
fathering
children
.
Prenatal
fetal
ultrasonography
and
echocardiography
were
performed
in
two
pregnant
women
affected
with
Holt-
Oram
syndrome
.
In
one
case
the
possibility
of
the
syndrome
was
excluded
,
in
the
other
Holt-
Oram
syndrome
was
diagnosed
.
In
two
further
cases
Holt-
Oram
syndrome
was
prenatally
diagnosed
on
the
basis
of
ultrasonography
in
two
midtrimester
fetuses
from
unaffected
parents
.
In
one
case
the
cardiac
and
skeletal
malformations
proved
to
be
so
serious
that
the
couple
requested
termination
of
the
pregnancy
.
The
pathologic
examination
of
the
fetus
confirmed
the
prenatal
diagnosis
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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