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Pseudoachondroplasia: a case report.
[achondroplasia]
Pseudoachondroplasia
(
PSACH
)
is
an
autosomal
dominant
osteochondrodysplasia
due
to
mutations
in
the
gene
encoding
cartilage
oligomeric
matrix
protein
.
It
is
characterized
by
rhizomelic
dwarfism
,
limb
and
vertebral
deformity
,
joint
laxity
and
early
onset
osteoarthrosis
.
We
present
the
girl
with
the
early
expressed
and
severe
PSACH
born
to
clinically
and
radiographically
unaffected
parents
.
A
6
.
5
-
year
-old
girl
presented
with
short-limbed
dwarfism
(
body
height
79
.
5
cm
,
<
P
5
;
-
32
%
)
and
normal
craniofacial
appearance
and
intelligence
.
The
girl
was
normal
until
3
months
of
age
when
she
expressed
growth
retardation
with
apparently
shorter
extremities
in
relation
to
the
torso
.
With
age
,
her
rhizomelic
dwarfism
became
increasingly
visible
,
and
since
completed
15
months
of
age
,
when
she
started
to
walk
,
the
disease
was
complicated
with
genu
varum
,
lumbar
lordosis
and
abnormal
gait
.
Beside
visibly
short
forearms
,
short
,
broad
and
ulnar
deviation
of
the
hands
,
brachydactyly
and
joint
hyperlaxity
,
the
radiographic
picture
showed
markedly
flared
metaphyses
,
small
and
irregular
epiphyses
and
poorly
formed
acetabulum
.
PSACH
is
an
achondroplasia
-like
rhizomelic
dwarfism
recognized
by
the
absence
of
abnormality
at
birth
,
normal
craniofacial
appearance
,
characteristic
epiphyseal
and
metaphyseal
radiographic
finding
and
joint
hyperlaxity
.
Diseases
Validation
Diseases presenting
"short"
symptom
22q11.2 deletion syndrome
achondroplasia
dentin dysplasia
hereditary cerebral hemorrhage with amyloidosis
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