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Associated malformations among infants with radial ray deficiency.
[holt-oram syndrome]
Infants
with
radial
ray
deficiencies
very
often
have
other
associated
congenital
anomalies
.
The
reported
frequency
and
types
of
associated
malformations
vary
between
different
studies
.
The
purpose
of
this
investigation
was
to
assess
the
frequency
and
types
of
associated
malformations
among
infants
with
radial
ray
deficiencies
in
a
geographically
well-defined
population
from
1979
to
2004
of
346
,
831
consecutive
births
.
Of
the
73
infants
with
radial
ray
deficiencies
born
during
this
period
(
prevalence
at
birth
of
2
.
1
per
10
,
000
)
,
75
%
had
associated
malformations
.
Infants
with
associated
malformation
were
divided
into
recognizable
conditions
(
16
(
22
%
)
infants
with
chromosomal
and
20
(
27
%
)
with
non
chromosomal
conditions
)
,
and
non
recognizable
conditions
(
19
(
26
%
)
infants
with
multiple
malformations
)
.
Trisomies
18
and
autosomal
deletions
were
the
most
frequent
chromosomal
abnormalities
.
VACTERL
association
,
thrombocytopenia
absent
radii
syndrome
,
Fanconi
anemia
and
Holt-
Oram
syndrome
were
most
often
present
in
recognizable
non
chromosomal
conditions
.
Malformations
in
the
musculoskeletal
,
cardiovascular
and
urogenital
systems
were
the
most
common
other
anomalies
in
infants
with
multiple
malformations
and
non
recognizable
conditions
.
The
frequency
of
associated
malformations
in
infants
with
radial
ray
deficiencies
emphasizes
the
need
for
a
thorough
investigation
of
these
infants
.
Routine
screening
for
other
malformations
especially
musculoskeletal
,
cardiac
and
urogenital
systems
anomalies
may
need
to
be
considered
in
infants
with
radial
ray
deficiencies
,
and
referral
of
these
infants
for
genetic
evaluation
and
counseling
seems
warranted
.
