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Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature.
[monosomy 21]
An
8
-
month
-old
caucasian
girl
with
monosomy
21
and
sclerocornea
underwent
bilateral
penetrating
keratoplasties
.
Both
light
and
electron
microscopic
studies
were
performed
on
the
corneal
buttons
.
Light
microscopy
revealed
variable
and
abnormal
corneal
thickness
with
the
peripheral
cornea
being
thinner
than
the
center
,
lack
of
Bowman
's
layer
,
irregular
stromal
lamellae
,
stromal
vascularization
,
markedly
underdeveloped
or
absent
Descemet
's
membrane
,
and
marked
attenuation
of
the
endothelium
.
Electron
microscopy
demonstrated
basal
epithelial
cells
with
a
thin
epithelial
basement
membrane
residing
directly
on
stromal
lamellae
without
intervening
Bowman
's
layer
.
Stromal
collagen
fibrils
were
irregular
in
size
measuring
38
-
69
nm
in
diameter
.
We
believe
this
to
be
the
first
report
of
corneal
transplantation
and
the
second
reported
case
of
sclerocornea
in
a
patient
with
monosomy
21
.
Diseases
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Diseases presenting
"the second reported case of sclerocornea in a patient with monosomy 21"
symptom
monosomy 21
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