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The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.
[aniridia]
The
ensuing
paper
by
Professor
Giovanni
Neri
and
colleagues
was
originally
published
in
1984
,
American
Journal
of
Medical
Genetics
19
:
195
–
207
.
The
original
article
described
a
new
family
with
a
condition
that
the
authors
designated
as
the
Perlman
syndrome
.
This
disorder
,
while
uncommon
,
is
an
important
multiple
congenital
anomaly
and
dysplasia
syndrome
;
the
causative
gene
was
recently
identified
.
This
paper
is
a
seminal
work
and
is
graciously
republished
by
Wiley
-
Blackwell
in
the
Special
Festschrift
issue
honoring
Professor
Neri
.
We
describe
a
familial
syndrome
of
renal
dysplasia
,
Wilms
tumor
,
hyperplasia
of
the
endocrine
pancreas
,
fetal
gigantism
,
multiple
congenital
anomalies
and
mental
retardation
.
This
condition
was
previously
described
by
Perlman
et
al
.
[
1973
,
1975
]
and
we
propose
to
call
it
the
"
Perlman
syndrome
.
"
It
appears
to
be
transmitted
as
an
autosomal
recessive
trait
.
The
possible
relationships
between
dysplasia
,
neoplasia
and
malformation
are
discussed
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated