Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Discovery of a large deletion of KAL1 in 2 deaf brothers.
[kallmann syndrome]
Kallmann
syndrome
(
KS
)
usually
combines
an
anosmia
and
a
hypogonadotrophic
hypogonadism
.
Hearing
impairment
was
described
in
a
few
cases
of
KS
.
Our
objective
is
to
describe
an
unusual
presentation
of
KS
in
2
cases
and
to
explore
the
pattern
of
inheritance
in
this
family
.
Two
brothers
presented
with
a
sensorineural
hearing
impairment
associated
with
cryptorchidism
and
abnormal
movements
.
Genome-
wide
array
analysis
identified
a
large
deletion
of
KAL
1
in
both
patients
confirming
the
diagnosis
of
Kallmann
syndrome
.
The
absence
of
familial
history
has
been
explained
by
a
somatic
mosaicism
identified
in
their
mother
.
The
description
of
a
hearing
defect
in
2
brothers
with
Kallmann
syndrome
allows
asserting
that
deafness
is
part
of
the
clinical
features
of
this
disease
and
must
lead
the
physician
to
monitor
the
hearing
function
of
Kallmann
patients
.
Diseases
Validation
Diseases presenting
"hearing impairment"
symptom
22q11.2 deletion syndrome
achondroplasia
benign recurrent intrahepatic cholestasis
canavan disease
congenital diaphragmatic hernia
dentinogenesis imperfecta
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
oligodontia
pendred syndrome
zellweger syndrome
This symptom has already been validated
