Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom