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Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V.
[dentinogenesis imperfecta]
Swellings
over
the
upper
and
lower
limbs
were
encountered
in
a
one
-
year
-old
child
.
Skeletal
survey
showed
a
constellation
of
distinctive
radiographic
abnormalities
of
osteoporosis
,
hyperplastic
callus
and
ossification
of
the
interosseous
membrane
of
the
forearm
,
femora
,
and
to
lesser
extent
the
tibiae
.
Neither
wormian
bones
of
the
skull
nor
dentinogenesis
imperfecta
was
present
.
Genetic
tests
revealed
absence
of
mutation
in
COL
1
A
1
or
COL
1
A
2
genes
,
respectively
.
The
overall
phenotypic
features
were
consistent
with
the
diagnosis
of
osteogenesis
imperfecta
type
V
(
OI
-V
)
.
The
aim
of
this
paper
is
to
distinguish
between
swellings
because
of
intrinsic
bone
disorders
and
these
due
to
child
physical
abuse
.
Diseases
Validation
Diseases presenting
"respectively"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
kallmann syndrome
lamellar ichthyosis
liposarcoma
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
triple a syndrome
von hippel-lindau disease
well-differentiated liposarcoma
wolf-hirschhorn syndrome
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