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
"deafness"
symptom
dentinogenesis imperfecta
epidermolysis bullosa simplex
hirschsprung disease
kabuki syndrome
kallmann syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
oculocutaneous albinism
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
