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Brachydactyly a possible inherited anomaly at prehistoric Prince Rupert Harbour.

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AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 76:363-376 (1988)
Brachydactyly, a Possible Inherited Anomaly at Prehistoric
Prince Rupert Harbour
JEROME S . CYBULSKI
Archaeological Survey of Canada, Canadian Museum of Ciuilization,
National Museums of Canada, Ottawa, Ontario, Canada KIA OM8
KEY WORDS
Paleopathology, Osteology, Brachymetapody,
Inheritance, Northwest Coast Indians, British Columbia
ABSTRACT
Disproportionately short metacarpals or metatarsals in eight
burial skeletons and three unusually short metapodials recovered as disturbed
bones were identified in a 1500 B.C. to A.D. 500 skeletal series from eight archeological sites of the north mainland coast of British Columbia, Canada. At
least ten people were affected from four sites for a minimum series frequency
of 5.2%. Various factors clinically implicated in the occurrence of brachymetapody were investigated to account for the anomaly. Context-sensitive
information suggested that trauma, infarction or infection, and individual or
family-related malformation syndromes were unlikely possibilities. Some modern population data suggest that the series frequency was unusually high, particularly for fourth metatarsal involvement, the most commonly affected bone.
Modern pedigree interpretations, ethnohistoric inferences,and the archeological
contexts of the affected burial skeletons and site samples provide a framework
for concluding that brachymetapody in the series was more likely due to the
inheritance of an essentially isolated anomaly.
Brachydactyly refers to short fingers or
toes owing to anomalous development of one
or more of the metacarpals, metatarsals, and
phalanges. Widely acknowledged in modern
clinical research, it is an individual malformation almost unknown in the literature of
paleopathology or archeology. Abnormally
short fourth metatarsals were reported for
two adult female skeletons as part of the
osteological surveys of an A. D. 1100-1200
American Indian site in the U.S. southwest
and a late prehistoric period site in the Canadian plateau (Merbs and Vestergaard,
1985; Pokotylo et al., 1987). Details on the
frequency of the anomaly and its possible
interpretive significance were not discussed.
This paper details the occurrence of brachydactyly and its somewhat more variable nature of expression in a 1500 B. C. to A. D. 500
skeletal series from eight shell-midden sites
on the north mainland coast of British Columbia, Canada. Brachydactyly was principally identified by one, two, or three short
metacarpals or metatarsals in eight burial
skeletons and by three unusually short me-
0 1988 ALAN R. LISS, INC.
tapodials recovered as disturbed bones. Four
sites were represented, suggesting a fairly
widespread distribution in this regional series.
Among living subjects, disproportionately
short metacarpals and/or metatarsals occur
as sporadic individual anomalies (e.g.,
Beighton, 1978:200) or from acquired disorders (e.g., Poznanski et al., 1977:711) but
have more commonly been reported as essentially isolated, autosomal dominant traits
in families or as part of individual or familyrelated multiple malformation syndromes
(e.g., Temtamy and McKusick, 1978: 187,
218-222,249-264). Problems in differential
diagnosis have spawned a n often confusing
literature with respect to specific digit involvement, possible genetic heterogeneity,
nature and degree of syndrome involvement,
and possibly associated skeletal malformations. Paleopathological diagnosis and interpretation are complicated by the fact that
~~
Received March 4, 1987; accepted November 3, 1987
364
J.S. CY BULSKI
very few data are available on the general
incidence of brachymetapody or its apparent
variant expressions in human populations.
In the absence of genealogical data, and
lacking the potential for histological, biochemical, and other nonskeletal observations essential to differential diagnoses, the
present study cannot resolve unanswered
clinical questions concerning brachymetapody. The Prince Rupert Harbour materials
also suffered from variable skeletal preservation and site disturbances, limiting the
consistencywith which the anomaly and other
skeletal malformations could be assessed in
the affected individuals and in the sample
as a whole. Some evidence, in the form of
clinical reports, modern population data, the
archaeological contexts of the examples, ethnohistoric inferences, other osteological data,
and differential site concentrations, suggests that the apparently high frequency of
brachymetapody at Prince Rupert Harbour
may reflect a genetic characteristic of this
sample without any syndrome relationship.
MATERIALS AND METHODS
Prince Rupert Harbour, about 65 km south
of the Alaska-Canada boundary, is in the
traditional territories of the Tsimshian, one
of several major historic Northwest Coast
Indian groups (Drucker, 1955). The skeletal
series was recovered between 1966 and 1978
under the auspices of the National Museum
of Man, Ottawa (recently renamed the Canadian Museum of Civilization), and studied
as part of a multidisciplinary archeological
investigation of the north coast of British
Columbia (MacDonald and Inglis, 1981).
Earlier osteological reports focused on cultural patterns of tooth wear and on culturally based postmortem bone modifications
(Cybulski, 1974, 1978). Since those works
were published, additional remains were excavated and studied resulting in a more comprehensive assessment of the total number
of individuals and represented sites. Also,
some revisions have been made in the ageat-death and sex identifications of individuals based on correlated morphological
indicators in the series as a whole. These
site data, incorporated in other recent treatments of the collection (Cybulski, 1986), are
shown in Table 1.
The excavated remains were largely represented as individual primary interments
but not necessarily as complete skeletons.
Many lacked various parts either through
TABLE I . Summary of Prince Rupert Harbour
individuals bv site and total series
idants
Site
Dodge Island
Garden Island
Parizeau Point
Boardwalk
Lachane
Baldwin
Grassy Bay
Ridley Island
Total series
Adolescents and
adults
and
children' Males Females Sex? Total
7
5
6
15
9
3
1
1
47
8
13
2
66
31
16
-
3
139
5
10
-
4
-
35
20
3
1
4
1
-
-
-
1
78
6
20
29
12
120
61
22
1
5
270
'Fetal or newborn to 12 years.
decay or extensive fragmentation, or as a
result of prehistoric or recent site disturbances. Complete sets of hand and foot bones
were rare, and some individuals lacked those
parts entirely. Northwest Coast shell-middens are notorious for disturbed cultural and
human remains, having been built up as refuse heaps in association with semipermanent (winter)villages or temporary (seasonal)
camps over periods of hundreds or thousands of years (Fladmark, 1986). Portions of
the mounds were dug and often redug for
human interments and other cultural activities, and living quarters were sometimes
built upon earlier segments of the middens.
Natural erosion and modern development
also took their toll at the Prince Rupert harbour sites (MacDonald, 1969; Inglis, 1974).
Consequently, there were many disturbed
and isolated bones that entered into the total
count of individuals, effectively a minimum
number estimate.
Thirty-nine radiocarbon dates from skeletons, together with 60 other site dates and
information on relative stratigraphic placements, indicated that all of the human burials were deposited between 1500 B.C. and
A.D. 500 (Cybulski, in preparation; see also
MacDonald and Inglis, 1981). In this context, the sites were contemporaneous and
the deposition continuous, though there appeared to be less burial activity during the
early third than in the later two-thirds of
the 2,000-year range. About 16%of 225 datable remains could wholly or partly be relegated to the first third of the range, 44% to
the second third, and 40% to the last third.
Frequent overlap in the radiocarbon date
ranges, however, suggested the cumulative
mortuary program of a common regional
population.
BRACHYDACTYLY IN CANADIAN SKELETONS
365
Fig. 1. a: Short fourth and right fifkh metacarpals in
burial 516. b: Short fourth metatarsals in burial 455; note
also the unrelated impaction fracture in the distal end of
the left f&h metatarsal.
Owing to the variable preservation of skeletons and missing parts, it was not possible
to assess all recovered individuals for brachydactyly and thereby obtain precise frequency data. The focus of observation,
principally qualitative in scope, was on short
metacarpals and metatarsals since those
components were most readily identifiable
numerically and by side. Although two examples are noted as part of this study, no
attempt was made systematically to identify
possibly shortened phalanges since many of
those bones were missing and the side and
numerical assignments of those present were
often in doubt.
RESULTS
Table 2 details the affected individuals and
bones by catalogue number (XVII-B series
in the Ottawa museum), age-at-death, sex,
and site affiliation. Illustrative examples are
in Figure 1.
Including the isolated bones, a t least ten
people were affected. Two isolated elements,
from two different sites, duplicated right and
left fourth metatarsals in the affected burial
366
J.S. CYBULSKI
TABLE 2. Individual and
Harbour remains’
Catalogue
Site
Age
Burial303
P
30-39
series
Sex Side MC1 MC2 MC3 MC4 MC5 MT1 MT2 MT3 MT4 MT5
F
Burial345
W
35-44
F
Burial372
W
45-54
M
W
Burial397
L
Burial455
22-28
25-34
M
M
Burial457
L
12-16
M?
Burial505
B
45-54
M
Burial516
B
16-20
F
Isolated 353 W Adult
?
?
Isolated 812 B Adult
?
Isolated 853 B Adult
Total bones affected
Total series bones observed
% affected
‘X
short; o
Boardwalk; L
=
=
=
distribution of short metacarpals and metatarsals in Prince Rupert
R
X
L
o
R
L
R
L
R
L
R
L
R
L
R
L
R
L
R
L
R
o
o
-
o
-
-
-
o
o
-
o
o
o
o
-
-
o
o
o
o
o
o
o
o
-
-
o
o
o
o
o
o
o
o
0
0
x
0
-
-
-
0
0
-
0
0
o
o
-
_
-
-
-
-
0
0
-
0
-
x
o
o
o
o
-
-
x
o
o
x
o
0
-
0
0
0
x
0
o
o
o
o
o
o
o
X
x
o
o
o
0
o
o
o
o
0
-
o
o
0
o
0
o
o
o
0
0
o
0
_
0
o
o
0
o
o
o
o
o
o
o
o
0
0
o
X
o
o
X
0
x
0
o
o
-
X
0
-
o
o
o
0
-
0
o
x
0
-
o
o
o
o
o
o
0
0
X
X
X
2
184
1.1
0
245
0
0
239
0
2
216
0.9
1
197
0.5
3
225
1.3
0
245
0
normal;
= bone missing or too incomplete for study. Site abbreviations:P
Lachane; B = Baldwin.
~
skeletons. The isolated short first metacarpal, No. 812 in Table 2, might have been the
missing left first metacarpal of burial 516
from the same site, though it probably was
from a different person. The bone had been.
collected from a different excavation unit,
and it showed marked surface erosion in contrast to the better preserved metacarpals associated with burial 516. There was little
disturbance of this burial on site, and its left
first metacarpal may have been missed on
recovery. About half the expected normal
complement of hand phalanges and most
phalanges of the feet were also missing in
the laboratory. At the same time No. 812
could not be verified as a distinct brachydactylous individual relative to an isolated
short fourth metatarsal recovered from the
same site. The two bones may or may not
originally have belonged to one person.
Shortened hand and foot components in
archeological remains are best noticed when
entire hands or feet are available for study.
In this way, the relative component lengths
among digits can readily be compared qualitatively as they are in clinical radiographs.
Occurrences in isolated bones may be difficult to identify unless population norms in
length have been established. Each of the
three isolated examples was distinctively
short when observed qualitatively as well as
when compared with the ranges and average
=
0
230
0
8
245
3.3
0
214
0
Parizeau Point; W
=
lengths for complete series of presumed normal bones in the Prince Rupert Harbour
sample. Where measurable lengths could be
compared between normal and abnormal
right and left counterparts in the same person, differences of 10 mm and 11 mm were
noted for two sets of metatarsals, a difference of 13 mm was observed between the
fifth metacarpals of burial 516, and a difference of 6 mm was recorded between the
shortened right first metacarpal of burial 303
and the normal left bone. These differences
were 16.5% to 29% greater than the proportionate differences between normal right and
left counterparts in the Prince Rupert Harbour collection. The isolated first metacarpal, No. 812, was 1 mm shorter than the
abnormal bone of burial 303 and 10 mm
shorter than the normal right first metacarpal of burial 516.
Table 2 also includes total numbers of first
through fifth metacarpals and first through
fifth metatarsals (sides combined) observed
in the Prince Rupert Harbour series. Almost
all counted were those in which the epiphyses were fully joined to the diaphyses. A
few were those of 12-16-year-old individuals, the youngest age at which brachydactylous metapodials could feasibly be detected.
The one affected individual in this group,
burial 457, featured a shortened right fourth
metatarsal in which the distal epiphysis ap-
367
BRACHYDACTYLY IN CANADIAN SKELETONS
TABLE 3. Incidence of brmhydactyy among Prince Rupert Harbour individuals
Site
Dodge Island
Garden Island
Parizeau Point
Boardwalk
Lachane
Baldwin
Ridley Island
Total series
Individuals
with
metacarpals
Freouencv
%
0/9
0122
113
0176
0139
2/15
014
3168
0.0
0.0
33.3
0.0
0.0
13.3
0.0
1.8
Individuals
with
metatarsals
Freouencv
%
019
0118
015
4/83
2/34
2/15
014
U168
0.0
0.0
0.0
4.8
5.9
13.3
0.0
4.8
Individuals with
metacarpals or
metatarsals'
Freauencv
%
0110
0125
115
4/92
2/41
3/15
014
101192
0.0
0.0
20.0
4.3
4.9
20.0
0.0
5.2
'If nos. 812 and 854 in Table 2 represent separate individuals (see text), the incidence for Baldwin would be 4/16 or
25%, and the total series incidence would be 111193 or 5.7%.
peared to have already fused but was extensively damaged postmortem. All other
metacarpals and metatarsals of this person,
indicated as normal in Table 2, had separate
epiphyses.
Each affected person lacked some of the
phalanges. Those present appeared normal
except in the case of burial 505. In this skeleton, in which the right first metatarsal was
11 mm shorter than the left, both first proximal foot phalanges appeared stunted compared with those of other individuals in the
Prince Rupert Harbour collection.
The series data in Table 2 indicate that
metatarsals were more commonly affected
than metacarpals and that the fourth metatarsal was most frequently shortened. Other
affected bones included first, fourth, and fifth
metacarpals, and first metatarsals.
Since brachydactyly has largely been recorded clinically as an individual malformation, it is informative for comparative
purposes to provide archeological frequency
data in terms of affected individuals. This is
clearly problematical when all individuals
are not represented by all parts of the hands
and feet. Table 3 reports three sets of data.
The last column includes site and total sample frequencies based on all those individuals (12-16 years and older) who had at least
one studiable metacarpal or metatarsal. A
second includes only those individuals with
normal or affected metacarpals, and a third
only those persons with normal or affected
metatarsals. None of these data are precise
since not all bones could be studied in each
subject. At best, each column provides a minimum frequency of occurrence. Additional
information concerning the frequency of affected individuals is provided in the next section relative to specific digit involvement.
DISCUSSION
Individual occurrences of disproportionately short metacarpals and metatarsals have
been reported as sporadic anomalies, i.e., apparently without family or syndrome significance (Beighton, 1978:200;Gates, 1946:407),
as a result of metaphyseal infarction or infection (Greenfield, 1980:81-87), as a result
of trauma (Greenfield, 1980:344),as skeletal
anomalies in individual syndrome manifestations of gonadal dysgenesis (Finby and Archibald, 1963; Keats and Burns, 1964; Park,
19771, as part of several separately identified family-specific syndromes thought to
represent genetic entities (Mollica et al., 1984;
Stern et al., 1984; Temtamy and McKusick,
1978:259-2631, as part of several syndromes
regarded as distinct genetic entities across
family lines (Bell, 1958; Edeiken and Hodes,
1973:127, 176-180; Fitch, 1982; Poznanski
et al., 1977; Steinbach and Young, 1966;
Temtamy and McKusick, 1978:250-2591, and
as inherited family traits with and without
associated digital or other limb anomalies
(Bell, 1951;Fitch, 1979;Holt, 1975;Ray, 1968;
Ray and Haldane, 1965;Riccardi and Holmes,
1974; Temtamy and McKusick, 1978:187,
218-222).
Family and medical histories, biochemical
and histological tests, and examinations for
other phenotypic abnormalities are essential for proper interpretation in clinical cases.
In paleopathology, the issue is decidedly
complex because only other skeletal changes,
possible digital and sex distribution patterns, and inferences about the affected skeletons based on archeology and ethnohistory
may be considered. Also, the clinical literature is often less than explicit concerning
potentially augmentative data. The follow-
368
J.S. CYBULSKI
ing four subsections argue for the elimination of other factors in the occurrence of
brachymetapody at Prince Rupert Harbour
in favor of its probable occurrence as an inherited isolated trait. Within this context,
the following features of the sample appear
pertinent: 1) multiple, including specific digit
bilateral involvement in at least three people (four, if one includes burial 505 with its
apparently short proximal big toe phalanges);2) the predominance of foot over hand
involvement; 3) the consistency of fourth
metatarsal involvement in six people; 4) a
lack of other skeletal changes in the affected
burials clearly indicative of a syndrome disorder related to brachymetapody; 5) an apparently high frequency of the anomaly; 6)
archeological and ethnohistoric information
suggesting a high probability that some of
the excavated remains in the Prince Rupert
Harbour series were those of close relatives;
7) a differential site distribution pattern in
the occurrence of brachymetapody closely
corresponding to that of another skeletal
anomaly in the series believed to have familial significance.While more or less weight
might be attached to each of these features
separately, their conjunction points to the
occurrence of an isolated inherited trait
and diminishes the likelihood of other explanations.
All digital injuries at Prince Rupert Harbour were in adult bones. Except for a possible greenstick fracture in a fibula of a
10-12-year-old, there was no gross evidence
for limb trauma in growing children or adolescents. Unlike the pattern in brachymetapody, most digital injuries were in hands
rather than feet, and single digit injuries
were the rule. Eighteen metacarpals, nine
hand phalanges, and six metatarsals were
involved. Multiple component injuries were
recorded in four of the 27 individuals, or 14.8%
as opposed to multiple component occurrences of brachydactyly in 40% of that sample, and they were restricted to hands. One
of the broken metatarsals was the left fifth
of burial 455 who also featured bilaterally
short fourth metatarsals. In view of a gross
distortion evident in that bone, indicating a
fracture &er growth was completed (see Fig.
lb), and the bilateral nature of brachymetapody in this person, the association was
likely spurious. The digital injury in burial
345 involved a fourth proximal hand phalange, clearly unrelated to that person’s short
fourth metatarsal. Premature epiphyseal fusion apparently occurred in the short fourth
metatarsal of burial 457, but this phenomenon has frequently been noted in nontraumatic expressions of brachymetapody
(Steinbach and Young, 1966).
On the likelihood of trauma
Trauma might seriously have been entertained to explain occurrences of brachymetapody at Prince Rupert Harbour. Exclud
ing equivocal examples, close to 40% of individuals exhibited traumatic fractures or
hematomata, one of the more significant
paleopathological characteristics of this series (Cybulski, 1986). Digital injuries of this
nature were recorded in 27 individuals or,
minimally, 14% of the total population (all
those with at least one observable hand or
foot bone), including two people with brachymetapody, Burials 345 and 455.
Though trauma has been cited as a potential cause of brachymetapody clinically, the
precise mechanism that results in an adult
bone that is otherwise normal is unclear.
Presumably, the damage would have to occur during growth and specifically involve
the epiphyseal cartilage, apparently stimulating premature fusion of the epiphysis. On
a series basis, the mechanism might expectedly be random, most often affecting no
more than a single digit.
On the likelihood of metaphyseal infarction
or infection
Brachymetapody resulting from metaphyseal infarction or infection has most commonly been linked with sickle-cell disease.
This disease is almost exclusively found in
Black African people and their New World
descendants, and is not known to have been
endemic among British Columbia Indians or,
for that matter, other native North American populations. The disease often exhibits
other skeletal changes (Edeiken and Hodes,
1973:360-374; Greenfield, 1980:74-94) that
were not apparent in any of the Prince Rupert Harbour skeletons with brachymetapody. It has also been stated that the
individual distribution of brachymetapody is
not symmetrical in this disease and that there
is no selective involvement of digits (Greenfield, 1980:85).
On the likelihood of one or more syndrome
relationships
Disproportionately short metacarpals and/
or metatarsals have been implicated in at
BRACHYDACTYLY IN CANADIAN SKELETONS
least eight distinct and six family-specific
multiple malformation syndromes.From both
clinical and paleopathological perspectives,
there are many problems involved in their
identification and differentiation both within
and outside the context of brachymetapody.
It is beyond the scope of this paper to argue
for or against the associations that have been
made, to describe, explain and attempt to
differentiate all of the features of the syndromes, and to detail their genetic or nongenetic bases. Those aspects have taken up
a good deal of the clinical literature, often
without firm conclusions and with confusing
or contradictory results. Many problems stem
from a lack of consistent reporting and detailed statistics concerning associated clinical abnormalities. Appendices A and B
summarize those features that may be helpful to paleopathological diagnosis and interpretation.
While the list of syndromes might suggest
multiple possibilities of the occurrence of
brachymetapody in any paleopathological
series, certain considerations tend to diminish that likelihood. First, the degree of involvement of brachymetapody in each of the
syndromes would appear quite variable (e.g.,
Appendix B), although knowledge of that involvement, particularly among the distinct
entities, is also variable. Only Turner’s syndrome and Albright’s hereditary osteodystrophy have been studied in any statistical
light with respect t o the occurrence of brachymetapody. These data, however, are
wanting. The bulk of research involving
Turner’s syndrome, a phenotypic disorder
affecting females with one of the sex (X)
chromosomesabsent or reduced, has focused
on the detection in radiographs of a “positive
or borderline metacarpal sign” as a possible
diagnostic indicator of gonadal dysgenesis
(Archibald et al., 1959). This focus has emphasized statistical knowledge of short fourth
metacarpals almost to the exclusion of other
hand or foot components occasionally noted
or illustrated as short.
Brachydactyly, in both hands and feet, has
more explicitly been addressed statistically
in Albright’s hereditary osteodystrophy, an
“autosomal dominant with sex modification”
(Fitch, 1982:15), and is regarded as a characteristic feature of the syndrome, the only
one of the distinct entities so defined. A problem with the data is that at least two variant
expressions of Albright’s hereditary osteodystrophy have been identified and one of
369
them, pseudo-pseudohypoparathyroidism,
has often been reported largely on the basis
of short metacarpals and metatarsals, a procedure that has led some investigators to
conclude overdiagnosis of the syndrome in
the literature (Fitch, 1982:17).
The involvement of brachymetapody in
Klinefelter’s syndrome, a sex chromosomal
abnormality in males, and in male patients
with myotonic dystrophy, an autosomal
dominant disorder that may affect both sexes,
in contentious. As with Turner’s syndrome,
brachymetapody has been reported for those
syndromes in terms of a positive or borderline metacarpal sign as a feature of gonadal
dysgenesis (Keats and Burns, 1964). Others,
however, have emphatically stated that the
sign does not occur in Klinefelter’s syndrome
(Archibald et al.,1959; Park, 1977). Outside
of a summary statement by Keats and Burns
(1964:312),no information could be found on
the occurrence of short fourth metacarpals
in myotonic dystrophy, a syndrome for which
other skeletal changes have been reported
in both sexes (see appendices). It is, therefore, uncertain to what extent the two syndromes might seriously be considered in the
differential diagnosis of brachymetapody.
There is uncertainty as well as to the degree of involvement of brachymetapody in
the nevoid basal cell carcinoma syndrome,
another autosomal dominant disorder, as
indicated in the footnote to Appendix B.
Similar problems exist for the LaurenceMoon-Biedl-Bardet syndrome, progressive
myositis ossificans, and hereditary multiple
exostosis, for which no comprehensive data
are available on the involvement of brachymetapody.
A second consideration with respect to the
likelihood of multiple syndrome possibilities
to explain the occurrence of brachymetapody
concerns the family-specific entities (BSI,
CHS, CRY, RUV, and TUO in Appendix A).
The reported features of these “private” syndromes, both skeletal and nonskeletal, suggest many similarities to those that have
been reported as distinct entities across family lines. The original authors of cryptodontic metacarpalia, published in 1971 (cited in
Temtamy and McKusick, 1978:259), have
since opined that their patients had Albright’s hereditary osteodystrophy (cited as
a personal communication in Fitch, 1982).
Similar reassessments may eventually prove
to be the case with some or all of the other
family-specific syndromes.
370
J.S. CYBULSKI
One possible feature that might serve to
eliminate most of the distinct entities from
consideration in the Prince Rupert Harbour
sample is the consistent emphasis on metacarpal involvement (see Appendix B). It is
difficult to know, however, the extent to which
this emphasis is a result of observational
bias. Most clinically based research and reporting of brachydactyly in general have focused on hand rather than foot involvement,
perhaps because hands are more readily visible or routinely x-rayed in potential subjects
admitted to clinics or hospitals for treatment
of their disorders.
Other skeletal changes have variably been
reported in all of the syndromes related to
brachymetapody (Appendix A). Some of them
are distinctive and far more important skeletal indicators (e.g., Appendix B), while others suffer from the same uncertainties of
association or have been less commonly reported than brachymetapody. Only three
changes, all from the second of these two
classes, were present in any brachydactylous
Prince Rupert Harbour skeletons: crowding
of the dentition in burials 303,455,457, and
516; spina bifida occulta in burials 455 and
516; and hyperostosis frontalis interna in
burial 345. While two changes were concurrent in individuals with brachymetapody, it
is difficult to make much of the associations.
Dental crowding has been implicated only in
the family-specific Ruvalcaba syndrome and
in direct association with a narrowed maxilla. It was not an unusual finding in the
Prince Rupert Harbour series with, minimally, 17% of the population affected.
Twenty-nine of 31 affected individuals, including three with brachydactyly, exhibited
crowding only in the lower dentition.
Spina bifida occulta has been implicated
in three syndromes. The two skeletons with
the anomaly lacked the more distinctive bone
changes of the Laurence-Moon-Biedl-Bardet
and nevoid basal cell carcinoma syndromes
and burial 516, a female, lacked the more
characteristic changes reported for Turner’s
syndrome (Appendix B). Spina bifida occults, usually in the sacrum but also in cervical or lumbar vertebrae, was recorded in
nine Prince Rupert Harbour individuals for
a minimum series frequency of 5.2%. The
anomaly has been regarded as a commonly
occurring normal variant in modern populations (Bennett, 1972) and may, in fact, hold
little significance for the identification of the
syndromes related to brachymetapody (e.g.,
Greenfield, 1980:305-307, with reference t o
Turner’s syndrome).
Hyperostosis interna, an irregular overgrowth of bone on the inner table of the skull,
most often in the frontal region, has been
reported with Albright’s hereditary osteodystrophy and myotonic dystrophy. This feature, however, has been associated with many
disorders unrelated to brachymetapody, and
has been noted to be fairly common in healthy
subjects, particularly middle-aged women
(Capraro et al., 1970; Salmi et al., 1962; Verdy
et al., 1980). The one in eight occurrence
among the brachydactylous Prince Rupert
Harbour individuals, a middle-aged female,
is virtually identical with the 12.2% frequency reported by Salmi et al. (1962) for
982 normal subjects. Outside of the brachydactylous group, four individuals from
Prince Rupert Harbour, including three females and one male, all estimated at 30 years
of age or older, displayed hyperostosis frontalis interna or its more extensive form, hyperostosis calvariae diffusae. There were no
indications of possibly associated abnormalities in these people. An overall series occurrence of 3.3%was recorded, considerably
lower than the normal figure reported by
Salmi et al. (1962). These differences were
likely influenced by sex distribution differences between the samples. The sample of
Salmi et al. had twice as many women as
men, while the opposite was true for the
Prince Rupert Harbour sample (see Table 1).
Salmi et al. reported a 16.7%occurrence in
women as opposed to only a 2.7%occurrence
in men.
On the likelihood of an inherited anomaly
Some modern population data suggest that
the frequency of brachymetapody at Prince
Rupert Harbour was unusually high, one
element that would argue for its occurrence
as an inherited rather than sporadic anomaly. These data pertain exclusively to the
fourth metatarsal, the most commonly affected bone. Tanaka (1963) reported three
cases in a sample of 3,115 Japanese schoolgirls and “no case . . . among boys in a sample of similar size.” For samples of several
thousands of individuals from different parts
of India, Ray (1968) recorded frequencies of
0.13%to 0.66%.At Prince Rupert Harbour,
right bones were affected in each of the six
cases, two of which also had short left bones.
There were 128 right and 117 left fourth
metatarsals in the total series. These data
indicate that 4.7%of people were affected, a
figure far in excess of what might be expected on the basis of the Japanese and East
Indian data.
BRACHYDACTYLY IN CANADIAN SKELETONS
For his samples, Ray (1968)concluded that
the manifestation of short fourth toes behaved as an irregular autosomal dominant
with penetrance values between 23% and
40%, decreasing with increased distance from
the propositi (see also Ray and Haldane,
1965). Thirty-eight of 61 examined pedigrees had two or more affected individuals.
Both bilateral and unilateral expressions
were noted (130 and 76 cases respectiveIy).
Eight percent of the affected had other limb
anomalies, occasionally also present in unaffectedfamily members. They included short
big toes or third toes, short thumbs or fourth
fingers, short distal phalanges, elongated index fingers or second toes, polydactyly or
syndactyly, club foot, or absence or reduction
of the patella. Ray suspected that most of
these anomalies were manifestations of a
main gene affecting short fourth metatarsals, possibly under the influence of modifying genes.
Other studies concerning the inheritance
of brachymetapody have centered on separate pedigree occurrences. Families have been
reported in which only the fourth metatarsal, only the fourth metacarpal, or both elements are short; only the second metacarpal
is short; only the first metatarsal is short;
short fourth or fifth metacarpals predominate but other finger o r toe digits are affected; multiple digits are involved together
with other skeletal anomalies like those reported by Ray; or there is multiple or single
digit involvement with short stature (e.g.,
Bell, 1951; Fitch, 1979). Authorities generally agree that autosomal dominance and reduced penetrance are in operation, but cannot
decide whether one or more genes are involved. All forms of brachymetapody were
initially given the classification of type E
brachydactyly to distinguish them from other
types mainly involving the phalanges, and
genetic heterogeneity was proposed (Bell,
1951). Fitch (1979) has suggested that the
phrase “type E” be reserved for multiple digit
involvement together with short middle and/
or distal phalanges and short stature, and
that forms in which short fourth metatarsals
and/or metacarpals occur alone or predominate might eventually prove to represent an
inclusive separate genetic entity.
Although additional large-scale population studies are obviously needed, Ray’s
(1968) results and Fitch’s (1979) offering
suggest a pattern for genetic interpretation
of the Prince Rupert Harbour data in which
short fourth metatarsals predominate but
other metatarsals or metacarpals may also
371
be short. Those individuals with short metacarpals need not have been part of a different genetic complex. In an English
pedigree, for example, Holt (1975) illustrated a woman with short fifth metacarpals
whose son and granddaughter each exhibited short left fourth metatarsals.
Without genealogical information, consanguinity cannot be proven among any of
the Prince Rupert Harbour individuals with
brachymetapody. However, archaeological
data and ethnohistoric inferences suggest a
high probability that some of the excavated
remains have been those of close relatives.
In their regional overview of the excavation project, MacDonald and Inglis (1981)
identified the four sites with brachydactylous individuals as continuously occupied
winter villages and a fifth, Grassy Bay, as
a seasonal camp. Although 1300 years separated the burial population from the historic period, the sites as a whole were referred
to the Coast Tsimshian, or Tsimshian proper,
one of three dialect-based Tsimshian subgroups.
Historically for the Tsimshian area (Boas,
1916; Garfield, 1939), winter villages served
as the focus of family life and tribal activities, and seasonal camps provided temporary quarters for individual activities directed
to fishing and plant gathering, and the preparation of winter food resources. In Tsimshian society, tribes were political units
formed of one large or several closely situated smaller villages, while families were
the significant functioning social units. The
villages were variably sized clusters of
dwellings, each house holding 20-40 persons, most of whom were members of a
single lineage including four or more generations. Where houses were not large enough
to hold the entire lineage, all members usually lived in the same village. However, families, with their distinctive names, crests, and
other ownership privileges, often cross-cut
the village communities of a tribe.
Village cemeteries were designated on land
contiguous with the villages or nearby on
small offshore islands. No details are available as to whether family members were
buried close together, but other northern
Northwest Coast groups with simiIar family-based social systems are known to have
commonly practiced lineage burial so that
“members . . . were kept close together as
they were in the communal house during
their lifetime” (MacDonald, 1973:l).
Although the extension of this information
1300 years into the past is inferential, it
372
J.S. CYBULSKI
suggests the possibility of consanguineous
relationships among at least some of the remains within the Prince Rupert Harbour village sites and, potentially, between sites.
Currently, the archaeological analysis is not
susciently complete to conclude possible
tribal entities among the village sites which
might serve as a basis for grouping them into
larger comparative population units. However, it is of interest that the three largest
village site samples each had at least two
individuals with brachydactyly. Of the three,
the Baldwin site, with at least three and,
possibly, four affected people and the highest concentration, also exhibited the highest
concentration at any site of another, likely
independent, skeletal anomaly believed to
have familial significance. The frequency of
posterior atlas bridging was 36.4% (n = 111,
comparable to that shown for first-degree
relatives in modern Canadian and United
States White communities (Saunders and
Popovich, 1978). The total Prince Rupert
Harbour series frequency was 15.3% (n =
1181, lower than the general population
figures for those communities (ibid.). The
frequencies a t the larger Lachane and
Boardwalk sites were 11% (n = 27) and
17.5%(n = 571, corresponding to their lower
incidence of brachymetapody, both, perhaps,
a reflection of their broader population genetic (i.e., familial) spectra.
Area distributions of the recovered burials
at each of these sites are also pertinent to
this discussion. The maximum linear distance over which the Baldwin site burials
were distributed was 30 m, while the burials
of the Boardwalk and Lachane sites were
distributed over distances of 88 m and 107
m, respectively. Burials 505 and 516 at the
Baldwin site were recovered about 15 m apart
and were archaeologically contemporaneous, dating in the late third of the Prince
Rupert harbour burial sequence. Approximately the same distance maximally separated the three brachydactylous burial
skeletons of the Boardwalk site; two were
assigned to the middle part of the burial sequence and the third bridged the middle to
late parts. Of stronger inferential value for
a lineage relationship was that the only two
individuals with brachymetapody a t the Lachane site were recovered from the same 1.5m2 excavation unit and within the same excavation level. They bridged the middle to
late thirds of the burial sequence.
None of the information in this section is
conclusive of an inheritance factor to explain
the occurrence of brachymetapody at Prince
Rupert Harbour. However, it does provide a
much more context-sensitive framework for
interpretation than other explanations for
short metacarpals and/or metatarsals cited
in the clinical literature. Clearly, it would
be useful to have more general, regional, and
site-oriented population studies on the frequency of brachymetapody and its variant
expressions, particularly in terms of its occurrence in modern and other prehistoric
North American Indian samples.
ACKNOWLEDGMENTS
Support for this study was provided by the
Canadian Museum of Civilization, Ottawa.
I thank George F. MacDonald and Richard
I. Inglis for entrusting me with the analysis
of the Prince Rupert Harbour skeletal remains and for providing free access to their
site excavation records. Christine Midwinter
and Nancy Struthers, with the museum library services, aided greatly with bibliographic searches and interlibrary loans, and
the Ottawa University Health Sciences Library provided generous access to their collections. Shelley Saunders, Robert McGhee,
and Patricia Sutherland kindly commented
upon earlier drafts of this paper, providing
valuable advice in their fields of expertise.
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General
Short stature or dwarfism
Tall stature
Acromegalic features
Osteoporosis
Osteosclerosis
Subperiosteal erosions
Single or multiple exostosis
SoR-tissue calcification or ossification
Skull
Hydrocephaly or megalocephaly
Microceuhalv
Oxycepialy "
Marked brachycephaly
Marked dolichocephaly
Marked frontal bossing
Marked parietal bossing
Undeveloped frontal sinuses
Enlarged frontal sinuses
Thickened cranial vault bones
Hyperostosis interna
Bridged clinoid processes
Hypertelorism
Facial asymmetry
Destructive jaw cysts
Narrow or hypoplastic upper jaw
Highly arched palate
Small mandible
Dentition
Congenital edentia
Loose or edopic teeth
Defective dentin or enamel
Impacted teeth
Crowded teeth
Supernumerary or congenitally
missing teeth, or teeth selectively
reduced or increased in size
Sternum and ribs
Thick or abnormally segmented
sternum
Bifid or fused ribs
Thinned and narrow ribs
Skeletal change
X
X
X
X
X
X
X
X
X
X
X
X
X
X
X
X
X
X
X
x
x
X
X
X
X
X
X
X
X
X
X
X
X
X
X
X
x
X
X
x
X
x
X
X
x
X
x
X
x
X
X
X
x
X
X
X
x
AH0 BSI CHS CRY EAB HME KLI LMB MY0 NBC PMO RUV l W 0 TUR
Syndromes'
APPENDIX A. Additional skeletal changes reported in syndromes related to short metacarpals andlor metatarsals
X
X
X
X
X
X
X
X
X
x
X
X
x
x
X
X
x
X
X
x
x
x
X
X
X
X
X
X
X
X
x
X
X
X
x
X
X
X
X
X
X
X
X
X
X
X
X
X
‘AH0 = Albright’s hereditary osteodystrophy (pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism) (Fitch, 1982;
Halal et al., 1985; Steinbach and Young, 1966); BSI = Biemond’s Syndrome I (Bell, 1951:26; Temtamy and McKusick, 1978:259);
CHS = corneal changes, hyperkeratosis, short stature, brachydactyly and premature birth (Stern et al., 1984); CRY = cryptodontic
rnetacarpalia (Fitch, 1982; Temtamy and McKusick, 1978:259); EAB = exostosis, anetodemia and brachydactyly (Mollica et al.,
1984);HME = hereditary multiple exostosis (Edeiken and Hodes, 1973:229-231; Fitch, 1982; J d e , 1958:150-168; Steinbach and
Young, 1966);KLI = Klinefelter’s syndrome (Edeiken and Hodes, 1973:316-317; Keats and Bums, 1964); LMB = Laurence-MoonBid-Bardet syndrome (Bell, 1958; Edeiken and Hodes, 1973:127; Levy et al., 1970); MY0 = myotonic dystrophy (Caughey, 1952;
Ishewood and Mawdsley, 1963; Keats and Bums, 1964); NBC = nevoid basal cell carcinoma syndrome (Anderson et al., 1967;
Gorlin et al., 1965); PMO = progressive myositis ossiiicans (Edeiken and Hodes, 1973:176-183); RUV = Ruvalcaba syndrome
(Temtamy and McKusick, 1978:259); TUO = Tuomaala syndrome (Temtamy and McKusick, 1978:262-263); Turner’s syndrome
(Edeiken and Hodes, 1973:307-315; Finby and Archibald, 1963; Lemli and Smith, 1963).
Spine
Scoliosis
Kyphosis
Osteochondritis of body plates
Fusion of select vertebrae
Progressive fusion of vertebral centra
Squared lumbar bodies
Hemivertebrae
Maldeveloped atlas or axis
Spina biflda occulta
Limbs
Short limbs
Abnormal clavicle form
Bowed forearm long-bones
Proximal radio-ulnar synostosis
Shortened ulna relative to radius
Elongated distal ulna
Medially sloping distal radius
surface
Fusion of select carpal bones
Pseudo-epiphysis in second
metacarpals
Male pelvic features in women
Femur neck thickened with irregular
bony overgrowths
Depressed medial tibia plateau with
enlarged femoral condyle and
proximal tibia laterally bowed
Polydactyly in hands andor feet
Fused middle and distal foot
phalanges
J.S. CYBULSKI
376
APPENDIX B. Most l&ly occurring skeletal changes, sex distributwns, and features of brachydactyly in
distinct syndromes related to short metacarpals andlor metatarsals
Syndrome
Albright’s hereditary
osteodystrophy
Hereditary multiple
exostosis
Klinefelter‘s syndrome
Laurence-Moon-Bid-Bardet
syndrome
Myotonic dystrophy
Nevoid basal cell carcinoma
syndrome
Progressive myositis
ossificans
Turner’s syndrome
Comments‘
Short stature and brachydactyly; females affected
twice as often as males; brachymetapody in 59%
to 96% of patients with multiple digit involvement
common, and short distal hand phalanges in 71%
to 78% of patients
Widely distributed exostoses or osteochondromata
in juxta-epiphyseal regions of long-bones, bowed
forearm bones and short limbs; males account for
70% of cases; short metacarpals “common”
Skeletal changes inconsistent; incidence approximately 1 in 800 live male births; short fourth
metacarpal (‘‘positive or borderline metacarpal
sign”) inconsistent
Short stature and polydactyly; males and females
about equally affected; short metacarpals, metatarsals or phalanges occasionally reported
Thickened cranial vault bones and hyperostosis
frontalis interna; males and females about
equally affected; short fourth metacarpal
(“positive or borderline metacarpal sign”) in
approximately half of male patients with
testicular atrophy
Multiple destructive jaw cysts and bifid or fused
ribs; males and females about equally affected
short fourth metacarpal in less than 4% of
patients
Ossification of muscles, tendons, and fascia, and
microdactyly of big toe; predominant in males;
short first and fdth metacarpals occasionally
reported
Short stature, early onset osteoporosis, and knee
deformity; incidence estimated at one in 3,000 live
female births; short fourth metacarpal (“positive
or borderline metacarpal sign”)in 33%to 70% of
patients, though other metacarpals, metatarsals
or hand Dhdanees occasionallv noted as short
‘References in Appendix A also Poznanski et al. (1977) for Albright’s hereditary osteodystrophy, Kosowicz (1965) and
Park (1977) for Turner’s syndrome, and Thompson and Thompson (1973:167, 170) for incidence data on Turner’s and
Klinefelter’ssyndromes. The incidence of brachymetapody in the nevoid basal cell carcinoma syndrome was calculated
from data for 55 cases of the syndrome reported by Anderson et al. (1967), Lile et al. (19681, Murphy (1969), Rater et
al. (1968), and Wallace et al. (1973); these data contradict the 30% incidence summarily reported by Temtamy and
McKusick (1978:255-256), a figure also out of line with the review of Gorlin et al. (1965).
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