Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].
[achondroplasia]
This
study
aimed
to
report
the
clinical
characteristics
and
COMP
gene
mutation
of
a
family
with
pseudoachondroplasia
(
PSACH
)
,
a
relatively
rare
spinal
and
epiphyseal
dysplasia
that
is
inherited
as
an
autosomal
dominant
trait
.
Clinical
information
on
a
5
-
year
-
2
-
month
-old
PSACH
child
and
his
parents
was
collected
and
analyzed
.
Diagnosis
was
confirmed
by
PCR
amplification
and
direct
sequencing
of
all
the
19
exons
and
their
flanking
sequences
of
COMP
gene
,
and
the
mutation
was
further
ascertained
by
cloning
analysis
of
exon
10
.
The
child
presented
with
short
and
stubby
fingers
,
bow
leg
,
short
limb
dwarfism
and
metaphysic
broadening
in
long
bone
as
well
as
lumbar
lordosis
.
A
mutation
c
.
1048
_
1116
del
(
p
.
Asn
350
_
Asp
372
del
)
in
exon
10
,
inherited
from
his
father
who
did
not
demonstrate
any
phenotypic
feature
of
PSACH
,
was
detected
in
the
child
.
PSACH
was
diagnosed
definitively
by
means
of
COMP
mutation
analysis
,
on
the
basis
of
the
child
's
clinical
and
imaging
features
.
The
non-penetrance
phenomenon
of
COMP
mutation
was
described
for
the
first
time
in
PSACH
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom