Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Homozygous N540K hypochondroplasia--first report: radiological and clinical features.
[achondroplasia]
We
describe
a
16
-
month
-old
male
with
N
540
K
homozygous
mutation
in
the
FGFR
3
gene
who
showed
a
more
severe
phenotype
than
hypochondroplasia
(
HCH
)
.
To
our
knowledge
,
a
homozygous
state
for
this
mutation
causing
HCH
has
not
been
reported
before
.
The
clinical
and
radiological
characteristics
of
our
patient
represent
an
intermediate
condition
between
achondroplasia
and
achondroplasia
/
hypochondroplasia
compound
heterozygosity
.
This
case
represents
a
new
expression
of
FGFR
3
spectrum
and
it
is
of
considerable
importance
for
the
genetic
counseling
in
cases
where
both
parents
are
affected
with
HCH
.
