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Cohen syndrome with high urinary excretion of hyaluronic acid.
[cohen syndrome]
Cohen
syndrome
(
MIM
216550
)
is
an
autosomal
recessive
disorder
of
unknown
pathogenesis
.
The
clinical
manifestations
of
Cohen
syndrome
can
be
explained
as
a
connective
tissue
disorder
.
We
found
a
remarkably
high
level
of
urinary
hyaluronic
acid
in
3
patients
with
Cohen
syndrome
.
Hyperhyaluronic
aciduria
is
a
characteristic
finding
in
Werner
syndrome
and
some
other
conditions
.
We
suggest
that
the
basic
defect
of
Cohen
syndrome
is
associated
with
a
metabolic
abnormality
in
the
extracellular
matrix
.