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Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction.
[achondroplasia]
We
report
the
first
case
of
a
neonate
with
concurrent
Chiari
II
malformation
and
achondroplasia
.
Although
rare
,
both
these
conditions
contribute
to
several
deleterious
anatomical
changes
at
the
cervicomedullary
junction
and
thus
predispose
to
acute
hydrocephalus
.
Although
our
patient
was
initially
asymptomatic
,
hydrocephalus
ensued
several
weeks
after
birth
and
required
cerebral
spinal
fluid
diversion
.
We
discuss
the
potential
links
between
the
two
conditions
,
the
pathophysiology
,
and
the
important
clinical
implications
for
the
management
of
the
increased
risk
of
hydrocephalus
.
