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Prenatal diagnosis of Holt-Oram syndrome: role of 3-D ultrasonography.
[holt-oram syndrome]
Holt-
Oram
syndrome
(
HOS
)
is
an
autosomal
dominant
disorder
consisting
of
a
congenital
heart
defect
in
combination
with
upper
limb
abnormalities
.
This
report
presents
the
ultrasonographic
follow-up
of
a
fetus
at
risk
for
this
syndrome
.
An
abnormal
four
-chamber
view
of
the
heart
and
slight
shortening
of
the
forearm
were
found
by
prenatal
ultrasound
performed
at
16
weeks
of
gestation
.
At
25
weeks
of
gestation
,
detailed
sonographic
examination
clearly
revealed
abnormalities
in
the
upper
limbs
and
heart
of
the
fetus
.
At
39
weeks
of
gestation
,
spontaneous
labor
and
delivery
produced
a
female
infant
weighting
2940
g
.
Postnatal
examination
of
the
infant
confirmed
the
prenatal
sonographic
findings
.
3
-
D
ultrasound
has
an
important
role
in
prenatal
diagnosis
of
HOS
,
which
is
essential
for
proper
genetic
counseling
.
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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