THE
INHERITANCE
OF
TARSAL
TO
M. A.
LEONARD,
From
the
Tarsal
this
coalition
anomaly
Indian
in
the
is not
phenomenon.
civilisation
in Ohio
Rose
in
(Heiple
and
ITS
RELATIONSHIP
FOOT
UPON
TYNE,
ENGLAND
Orthopaedic
Hospital
Surgery,
Edinburgh,
of Orthopaedic
a modern
a Mayan
civilisation
Margaret
Department
AND
FLAT
NEWCASTLE
Princess
Universiti’
COALITION
SPASTIC
and
Scotla,zd
Archaeological
Guatemala
Lovejoy
findings
have demonstrated
1965) and in a pre-Columbian
dated around
900-950
A.D.
Buffon
(Harris
1969),
both
(1769)
was probably
the first to recognise
the occurrence
of tarsal
coalition,
although
the
undated
specimen
in the Museum
of the Royal
College
of Surgeons
of England
described
by John Hunter
probably
dates from
1760 to 1 770 (Allen
1973).
Calcaneo-navicular
coalition
was
first
described
anatomically
by Cruveilhier
(1829)
and
talo-calcaneal
coalition
by
Zuckerkandl
foot
(1877).
Holl
and intertarsal
Pfitzner
(1896)
accessory
ossicles
work
of Slomann
(1950),
Outland
Leboucq
that
tarsal
primitive
and
made
that
and
(1890),
Murphy
Solger
coalitions
her
(1953)
(1890),
were
the
Harris
results
confirm
a tentative
tarsal
into major
adjacent
(1921),
Cave (1926),
mesenchyme.
foetus
(1880)
bars.
proposed
suggestion
coalitions
relating
were
caused
tarsal
bones.
This idea
Badgeley
(1927),
Harris
and Hark
(1960).
Dwight
(1907),
Trolle
result
of
(1955)
demonstrated
the
a failure
proposal
that
of
peroneal
by
the
and
support
(1948),
Jack
defect
of
from the
Chambers
(1954)
differentiation
and
that such anomalies
a mesenchymal
flat
incorporation
has received
and Beath
(1948)
spastic
proposed
segmentation
can occur
is the cause.
of
in the
Pfltzner’s
hypothesis
of incorporation
of accessory
ossicles
is not acceptable
because
it fails to explain
the disorder
in the foetus.
In spite of Sir Robert
Jones’s
clinical
description
of peroneal
spastic
flat foot in 1897,
it was
not until
the work
of Slomann
(1921),
Badgeley
(1927)
and Harris
and Beath
(1948)
that
tarsal
coalitions
were conclusively
linked
with
peroneal
spastic
flat foot.
It is now
appreciated
tarsal
Gibson
that
coalition
1967).
with
early
may
be
Occasional
reports
have
inherited.
Rothberg,
Feldman
and Bersani
and Samilson
although
they drew attention
the hand
and
foot,
Glessner
and
tarsal
coalition
gross
Tarsal
limb
(Nievergelt
been
520
bar
(1966)
suggested
were
caused
suggesting
that
(1944),
Webster
1944),
the
fusions,
gross
and
gene
and
twins
with
was of genetic
Austin
of
did
coalitions
are
Roberts
(1951)
single
families,
but
not comment
on the
mutation
They
fusion
anomalies
of symphalangism
(1917)
tarsal
and
of a family
in which
calcaneoconcluded
that some and perhaps
penetrance.
for other
are known
to be present
1953).
They
are also
occurrence
by Drinkwater
in members
feet, they
by a specific
with reduced
genes
responsible
multiple
coalitions
(O’Rahilly
and
peroneal
spastic
flat foot due to
1955,
Harris
1965,
Mitchell
and
three
generations
generation.
They
reported
monozygotic
that the condition
and carpal
anomalies
documented
foot.
reported
in each
dominant
of several
including
Davis
and
treatment
of
1954,
Blockey
(1957)
reported
the anomaly
to the occurrence
of painful
of calcaneo-navicular
behaved
as an autosomal
was distinct
from each
(Jack
appeared
in the literature
and Shuster
(1935),
Boyd
presence
of peroneal
spastic
flat
Wray
and Herndon
(1963)
navicular
coalitions
were found
all cases
the
recognition
successful
which
suggested
defects
varieties
peroneal
etiology.
that
in the
of symphalangism.
spastic
in phocomelia,
found
in other
hemimelia
congenital
with
carpal
tarsal
and
possibly
this gene
bones
of
flat
foot
and
and other
disorders
coalitions
has
(1951).
THE
JOURNAL
OF
BONE
AND
JOINT
SURGERY
THE
INHERITANCE
This
foot;
paper
TARSAL
concerns
between
COALITION
the
associated
with
cases
exists
OF
tarsal
AND
relationship
carpal
RELATIONSHIP
between
anomalies
and
ITS
have
tarsal
been
development,
TO
coalitions
excluded.
it was
SPASTIC
FLAT
and
peroneal
However,
felt
that
this
521
FOOT
because
study
spastic
flat
a relationship
should
include
the
carpus.
MATERIAL
An
treated
METHOD
AND
attempt
was made
to trace all those
patients
still living
in Edinburgh
over
the period
1940-70
for peroneal
spastic
flat foot in association
and
1-An
oblique
radiograph
of the tarsus of an adult showing
the normal
relationship
the calcaneus
and the navicular.
Figure 2-An
oblique
radiograph
of a tarsus showing
a slender
prolongation
of the anterior
process
of the calcaneus.
They
coalition.
examined
had been
with
tarsal
2
FIG.
Figure
between
who
and their
first degree
relatives
(parents,
sibs and children)
were interviewed
clinically
and radiographically,
with emphasis
on the tarsus
and carpus.
Family
pedigrees
were obtained
and attention
feet of the relatives.
Thirty-one
index
were traced.
was paid to any symptoms
patients
and ninety-eight
INCIDENCE
OF
Authors
hands
or
relatives
I
TABLE
THE
referable
to the
of their first degree
TARSAL
COALITION
Material
Incidence
2of524
Pfitzner
Harris
The
incidence
of
(1896)
and Beath
Vaughan
and Segal
Shands
and Wentz
tarsal
.
Post-mortem
Potential
army
recruits
.
(1948)
.
(038 per cent)
(0031 ofper3,600
cent)
21 of 2,000
(1 per cent)
(1953)
Army
(1953)
Children’s clinic
coalition-This
is not
personnel
known
for
11 of 1,232
(09 per cent)
certain.
attempted
to show
the frequency
(Table
I), but these
studies
have
groups
and do not give a true over-all
population
incidence.
However,
assistance
VOL.
56 B,
in that
NO.
3,
not
AUGUST
one
of these
1974
groups
gives
an incidence
above
Various
been based
the figures
1 per
cent.
authors
have
on selected
are of some
522
M.
Radiography-Because
interpretation
the
of
survey
possible
was
A.
LEONARD
based
on
All index
anomalies.
radiography,
patients
and
and standing
lateral
views of the feet, together
with
views of the subtalar
joint
(Harris
and Beath
1948)
a large family
survey
to resort
to lateral
tomography
oblique
the
calcaneo-navicular
The
appearances
oblique
hindfoot
(Fig. 6). It was
of the subtalar
3
FIG.
3-An
Figure
rigid criteria
were used in the
relatives
had antero-posterior
views (Fig.
1) and
thought
impracticable
region
as suggested
4
FIG.
radiograph
of a tarsus
interspace.
Figure
showing
4-An
an os calcaneus
oblique
view
of
secundariusjust
the
axial
in
by
tarsus
visible
of
suggest a calcaneo-navicular
anomaly,
but in comparison
with
is insufficient
evidence
to regard such a case as one of coalition.
in
8.
5 there
a girl
aged
Figure
L
FIG.
An
Cowell
(1972).
index
patients
and
also
socket”
taken.
Seddon
ankle
and
joints
(1932)
considered
and
lateral
relatives.
in some
related
5
radiograph
of a tarsus
showing
calcaneo-navicular
coalition.
Antero-posterior,
both
was pathological
oblique
and
Because
cases
that
oblique
Lamb
of tarsal
a prolongation
to calcaneo-navicular
views
(1958)
coalition,
typical
of the
carpus
reported
the
radiographs
of the
coalition
THE
of the
anterior
(Fig.
JOURNAL
were
process
2).
In this
OF
also
taken
occurrence
BONE
of
ankle
joint
of the
series
AND
in
“ball
were
calcaneus
such
JOINT
cases
SURGERY
THE
INHERITANCE
were
OF
counted
(1896)
as negative
considered
coalition
as
3).
an
it was
“os
Because
AND
ITS
felt that
calcaneus
a true
RELATIONSHIP
they
TO
do not
secundarius”
coalition
does
FLAT
represent
was
certainly
SPASTIC
true
related
not
exist
FOOT
523
coalition.
to
Pfitzner
calcaneo-navicular
here,
all such
cases
were
negative.
Figure
tarsal
COALITION
because
that
(Fig.
counted
TARSAL
4 shows
coalition,
regarded
as
navicular
and
a possibly
but
this
definite
ponents
similar
coalitions.
talo-calcaneal
bar
in a girl
radiographic
Figures
fusion,
FIG.
Figure
developing
and
5 and
which
are
aged
eight
appearances
7 show
of course
with
in
this
examples
of
regarded
as
6
a family
age
history
group
were
undoubted
positive
of
not
calcaneo-
findings.
7
FIG.
6-An
axial radiograph
of the subtalar
region of a normal
subject
showing
both comof the subtalar
joint.
Figure 7-An
axial radiograph
of the subtalar
region
showing
typical talo-calcaneal
coalition,
with some evidence
of a rudimentary
subtalar
joint.
RESULTS
Table
cent
II shows
of parents
the
and
46
proportion
per
cent
of the
of
sibs
first
degree
were
TABLE
TARSAL
Index
COALITION:
PROPORTION
patients
31
with
is,
tarsal
39
per
coalition:
cent
33 per
of first
degree
IL
OF AFFECTED
Parents
18of55
(33 per cent)
relatives
affected-that
FIRST
Siblings
(465
20of43
per cent)
DEGREE
RELATIVES
Total
38of98
(39 per cent)
relatives.
Of the thirty-one
index patients,
twenty-seven
had calcaneo-navicular
had talo-calcaneal
coalition.
An analysis
of the first degree
relatives
of the twenty-seven
index patients
navicular
coalition
is shown
in Table
III : 25 per cent also had calcaneo-navicular
but 14 per cent had talo-calcaneal
or some
other
type of tarsal
fusion.
Of
coalition
the
patients
fusions.
and
four
VOL.
with
56 B, NO.
talo-calcaneal
3,
AUGUST
coalitions,
1974
eleven
affected
relatives
all had
similar
with
calcaneocoalition,
four index
524
M.
A. LEONARD
Table
1V shows
the age and sex distribution
of the first degree
relatives
in the series.
The sex ratio was approximately
equal,
and there was no significant
difference
in the ages of
the affected
parents
and sibs with regard
to sex.
Table V shows the side offusion
; there was no significant
difference
between
index patients,
parents
or sibs in regard
to whether
the fusions
were bilateral
or unilateral;
most (80 perU cent
or more)
were
bilateral.
TABLE
TARSAL
COALITION
: PROPORTION
Index patients
Ill
OF
AFFECTED
Parents
.
.
275
COALITION
: AGE
Total
25 per cent
per cent
and other coalitions
llpercent
17Spercent
l4percent
34 per cent
45 per cent
39 per cent
TABLE
TARSAL
RELATIVES
only
23 per cent
Talo-calcaneal
Total
DEGREE
Siblings
Calcaneo-navicular
27
(calcaneo-navicular
coalition
only)
FIRST
AND
SEX
RATIO
IV
OF
INDEX
AND
FIRST
DEGREE
Average
Male
Female
at time
RELATIVES
age in years
of survey
Male
31 index
patients
.
15
16
20
22
18 affected
parents
10
8
57
55
20 affected
siblings
9
11
245
21
V
TABLE
TARSAL
:
COALITION
DISTRIBUTIONS
.
of “ball
and
socket”
being
Bilateral
coalition
25
.
3
(17 per cent)
(83
.
(15 per cent)
3
examination
abnormalities.
joint
COALITIONS
(80 per cent)
.
20 siblings
Clinical
and radiological
relatives
failed
to show any
THE
(20 per cent)
patients
18 parents
.
6
.
31 index
OF
Unilateral
coalition
.
Subjects
case
of the carpus
Radiographs
per15 cent)
17
(85 per cent)
in both index patients
of the ankle
were
medical
treatment
for
such
and first degree
also negative,
no
found.
Clinical
examination
of the feet of the first degree
relatives
was
those with a tarsal abnormality
had no evidence
whatever
of peroneal
not one of the ninety-eight
first degree
relatives
had ever complained
received
Female
quite remarkable
in that
spastic
flat foot.
Indeed,
of a painful
foot or had
a condition.
THE
JOURNAL
OF
BONE
AND
JOINT
SURGERY
THE
INHERITANCE
OF TARSAL
COALITION
AND
ITS RELATIONSHIP
TO SPASTIC
FLAT
525
FOOT
DISCUSSION
The
unifactorial
results
in this study
suggest
that tarsal
coalitions
disorder
of autosomal
dominant
inheritance,
there does not seem to be any genetic
difference
Furthermore,
coalitions,
since
14 per
from
the index
flat foot appear
rather
than the
cent
of relatives
were
found
to have
patient
(Table
III).
Because
tarsal
to be inherited,
the concept
of foetal
sporadic
incorporation
of accessory
coalitions
seen in such conditions
as Nievergelt’s
or hemimelia
are unrelated
to the tarsal
coalitions
It is difficult
to explain
coalition
being present
tarsal
patients
and
had symptoms.
tarsal
coalitions
in this
study,
were
where
From
the
free
from
cent
of the
of
this
survey
results
symptoms.
This
subjects
it
would
may
be related
to genetic
variability
coalition
for sixty-nine
therefore
that
in all first degree
In the whole
survey
(thirty-one
patients
tarsal
contrast
coalition
appear
that
and
phocomelia
foot.
flat
relatives,
in spite of
of thirty-one
index
to the
were
tarsal
reflected
patients
the tarsal
of 129 or 24 per
(22 per cent) studied
results
free
cent)
with
obtained
from
coalition
on symptomatic
peroneal
The absence
ofsymptoms
of expression
of tarsal
or in symphalangism,
in peroneal
spastic
is in marked
with
phenomenon
and that clinical
studies
based
estimate
the true occurrence
ofthe
anomaly.
as yet
syndrome
found
only the index
patients
that five of twenty-three
76 per
form
in this situation,
It is probable
the absence
of symptoms
in 39 per cent of them.
ninety-eight
relatives,
Jack (1954)
noted
a different
coalitions
in relation
to peroneal
spastic
maldevelopment
as a cause is supported,
ossicles
into major
tarsal
bones.
It seems
that the carpus
is entirely
unaffected
tarsal
fusion
failed
to reveal
any carpal
coalition.
with
are inherited,
most probably
as a
very nearly
of full penetrance.
in the inheritance
of the different
symptoms.
is not
a rare
spastic
flat foot underin certain
circumstances
in minor
anatomical
variations
unknown.
SUMMARY
I
with
A clinical
peroneal
.
and radiological
spastic
flat foot
survey
has
and tarsal
been made
of the families
of thirty-one
coalition
(twenty-seven
calcaneo-navicular,
patients
four
talo-calcaneal).
2.
Thirty-nine
tarsal
coalition.
A surprise
3.
per
referred
to the
4.
case
No
I wish
of ninety-eight
finding
was
that
first
not
one
degree
of the
relatives
were
degree
relatives
had
ever
or of carpal
coalition
was
found
first
to
found
to have
some
had
type
of
symptoms
tarsus.
of “ball
and
socket”
ankle
joint
to thank
Professor
J. I. P. James and Miss R. Wynne-Davies
I am grateful
to the members
of the staff of the Princess
me access to the records
of their cases. I am also indebted
Miss V. Lindsay
and Mrs E. Ward for secretarial
assistance.
paper.
allowing
and
cent
for their help
Margaret
Rose
to the members
in this
series.
in the preparation
of this
Orthopaedic
Hospital
for
of the Clinical
Genetic
staff,
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F.
BERSANI,
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BLOCKEY,
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R. L. (1957):
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H. R. (1972): Talocalcaneal
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R. I., and BEATH,
T. (1948):
Etiology
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M. (1880):
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E. A. (1954):
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Journal
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Sir R. (1897): Peroneal
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D. (1958): The ball and socket ankle joint-a
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