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The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
We
report
the
cases
of
two
sibs
with
the
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
.
The
parents
are
first
cousins
.
These
cases
further
support
the
view
that
this
syndrome
is
inherited
in
an
autosomal
recessive
fashion
.
Diseases
Validation
Diseases presenting
"first cousins"
symptom
cadasil
cowden syndrome
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
oligodontia
triple a syndrome
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