Rare Diseases Symptoms Automatic Extraction
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Perinatal/neonatal case presentation: unexpected severe respiratory insufficiency in a newborn with Holt-Oram Syndrome.
[holt-oram syndrome]
Holt-
Oram
syndrome
is
an
autosomal
dominant
condition
characterized
by
skeletal
and
cardiac
defects
.
Pulmonary
malformation
is
not
reported
to
belong
to
the
spectrum
of
this
condition
.
We
report
a
second
case
of
a
newborn
with
Holt-
Oram
syndrome
who
developed
severe
respiratory
insufficiency
shortly
after
birth
.
We
discuss
possible
genetic
links
between
abnormal
pulmonary
morphogenesis
and
Holt-
Oram
syndrome
.
Diseases
Validation
Diseases presenting
"second case"
symptom
allergic bronchopulmonary aspergillosis
canavan disease
coats disease
cutaneous mastocytosis
esophageal adenocarcinoma
fabry disease
holt-oram syndrome
junctional epidermolysis bullosa
legionellosis
malignant atrophic papulosis
omenn syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
von hippel-lindau disease
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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