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 American Journal of Medical Genetics 65:l-4 (1996)
Invited Editorial Comment
Anthropometric Determination of
Craniofacial Morphology
Leslie G. Farkas and Curtis K. Deutsch
Department of Surgery, University of Toronto, and Craniofacial Measurement Laboratory, Division of Plastic Surgery,
The Hospital for Sick Children, Toronto, Canada (L.G.F.); and Department of Behavioral Sciences and Medical
Genetics, Kennedy Shriver Center, Harvard Medical School (C.K.D.), Boston, Massachusetts
INTRODUCTION
The field of medical genetics has grown rapidly in re-
cent years, with the advent of an increasing selection
of molecular techniques to delineate genetic syn-
dromes. Until recently, it seemed that this acceleration
in sophistication had bypassed one of the most basic
elements of clinical description for syndromes, the de-
termination of craniofacial morphology. Now, however,
investigators have built upon classical anthropometry
traditions to develop objective, reliable methods for the
diagnosis of craniofacial anomalies.
Whereas the goal of the craniofacial surgeon is the
restoration of normality t o the abnormal face [Farkas,
1981, 1994a1, the primary goal of the clinical geneticist
is the diagnosis of a wide range of anomalies [e.g.,
Deutsch, 1987; Hall et al., 1989; Ward, 1994; Allanson
and Cole, 1996; Hunter, 19961.Although the objectives
of craniofacial surgeons using quantitative examina-
tion methods (surgical anthropometry) differ from
those of clinical geneticists, techniques for carrying out
the measurements should be the same [Farkas, 19961.
UTILITY OF QUANTITATIVE DIAGNOSIS
The availability of a consistent system of measure-
ments has several advantages, as follows:
This provides the morphologist with clinical methods
to describe objectively the patient’s phenotype, gener-
ating an individualized list of anomalies using stan-
dardized procedures.
Patients with a recognized common diagnosis (e.g.,
a single-gene disorder or aneuploidy) can be described
quantitatively as well as qualitatively with reference to
a common standard for phenotypic expression. Use of a
common metric can prove to be a boon to systematics in
Received for publication November 27, 1995; revision received
January 31,1996.
Address reprint requests to Dr. Leslie G. Farkas, Craniofacial
Measurement Laboratory, Division of Plastic Surgery, 555 Uni-
versity Avenue, Toronto, Ontario M5G 1x8,Canada.
0 1996 Wiley-Liss, Inc.
syndromology [e.g., the atlases by Jones, 1988; Gorlin
et al., 19901.
These methods also provide a metric for detecting
new syndromes. Standardized metrics would aid med-
ical geneticists in reporting manifestations in such
databases as the London Dysmorphology Database,
POSSUM, etc.
As well, anthropometrics may provide investigators
with a means of relating molecular genetic findings
to the study of normal craniofacial development and
pathogenesis, as discussed further below.
CLINICAL ASSESSMENT
Direct measurement procedures can be painstaking
and time-consuming. But as Hall et al. 119891 recog-
nized, they are worth the trouble because “this descrip-
tive phase has brought us to a new stage where accu-
racy and quantitation have become desirable” (p. 1).To
help foster this new phase, we have been pleased to
contribute parts of our methodology and normative
database [Farkas, 19811 to their anthropometric hand-
book [Hall et al., 19891.
Though some craniofacial anomalies are qualitative
traits (e.g., preauricular skin tags and pits), most are
on a graded continuum, i.e., quantitative traits. Diag-
nosis of an anomaly in children and adolescents is car-
ried out in consideration of a shifting developmental
baseline; and a t any age, sex, and ethnicity must also
be taken into account. Each individual’s score is as-
sessed against applicable population norms [Farkas
and Munro, 1987; Farkas et al., 1994a; Deutsch and
Farkas, 1994; Deutsch and DAgostino, 19941. Thus,
the clinician comparing measurements to normative
databases should reproduce the techniques used in col-
lecting these norms as closely as possible.
How can the clinician most efficiently learn these
methods? The instruments and measurement tech-
niques are described in detail in the new edition of
“Anthropometry of the Head and Face” [Farkas, 1994~1,
which is supplemented by an extensive normative
database [Farkas et al., 1994a,b,cl. As procedural de-
scriptions are not detailed in this text, the physical ex-
amination is best taught hands-on in a workshop. A
2 Farkas and Deutsch
convenient way to provide instruction is by instruc-
tional video [Deutsch et al., 1994a,bl.
Medical craniofacial anthropometry techniques differ
from those of classical physical anthropology, in the
greater number of craniofacial landmarks and measure-
ments, in the methods used to make some measure-
ments, and in the interpretation of the findings. At
present, various methods of medical anthropology are
used, including direct anthropometry (in which mea-
surements are taken directly from the subject) and
three indirect anthropometric methods: photogramme-
try, soft-tissue facial-profile cephalometry, and com-
puter-imaged three-dimensional (3D) craniofacial sur-
face scans. However, all these methods involve three
basic elements of the examination: location of the cran-
iofacial surface landmarks, execution of measurements,
and evaluation of the findings using normative data.
LANDMARK LOCATION
In medical anthropometry, 47 craniofacial landmarks
have been described [Farkas, 1994~1.Most of them are
identified visually, some with the patient’s head in a
standard Frankfurt horizontal (FH) position. Alterna-
tively, their location may be defined with respect to the
lateral view of the face or the base view of the nose, or
at underlying bony areas identified by palpation. In
some facial anomalies certain landmarks may be more
difficult t o identify [Farkas, 1994dl.
In direct anthropometry, we find it efficient to directly
draw some landmarks on the face prior to measure-
ment, providing consistency throughout the examina-
tion and shortening examination time. In indirect an-
thropometry, the accuracy of the findings is enhanced
by identifying the landmarks prior t o photography or
surface scanning.
MEASUREMENT
At present in direct anthropometry, 132 measure-
ments are listed; 103 are linear and 29 are angular (in-
clinations and angles). Nineteen of these linear mea-
surements are tangential arcs, and 84 are projective
distances [Farkas, 1994~1.Further, we selected 155
proportion indices that provide additional measures for
quantitative evaluation [Farkas and Munro, 19873.
Reliability of the measurements depends on techni-
cal precision in locating landmarks, maintaining the
required craniofacial orientation, and patient compli-
ance. Patients, particularly those under the age of 6
years, become restless during an examination. The be-
havior of examinees is affected not only by the number
of measurements taken but also by the requirement t o
take measurements with the child’s head in a standard
position.
DIRECT ANTHROPOMETRY
The advantages of direct methods include access t o
measurements of areas covered by hair (e.g., circumfer-
ence, width, length, and height of the head) or areas
that would be distorted by indirect anthropometry (e.g.,
the depth of the face in photogrammetry); measure-
ments that require special positions of the head (e.g.,
the base view when measuring the soft nose structures
and the nasal root depth); and those that require a spe-
cial technique such as pressing the tip of the instru-
ment to the underlying bone surface when a measure-
ment is made between bony landmarks (e.g., the
modified width of the forehead between the frontotem-
porale points located laterally from the temporal lines,
the width of the face between the zygions, and the
width of the mandible between the gonions).
Disadvantages include the prolonged time needed to
perform the examination (greatly influenced by the
number of measurements desired and the behavior of
the examinee), a requirement for a certain level of skill
in performing the measurements, and a dependence on
the accuracy of the examination and on cooperation
from the examinee for acceptable results.
INDIRECT ANTHROPOMETRY
Photogrammetry, soft-tissue profile cephalometry,
and computerized structured-light surface scanning,
the indirect methods of craniofacial surface anthro-
pometry under discussion here, have three common ad-
vantages: a short examination time, less dependence on
the examinee’s behavior, and a simple measuring tech-
nique for cases in which special head positions are re-
quired (e.g., FH, the vertical facial midaxis).
Among the disadvantages in photogrammetry and
soft-tissue profile cephalometry are the reduced num-
ber of reliable projective linear measurements. Also
troublesome are the introduction of distortions in pho-
tographs [Farkas, 1994bl and a lack of standardization
in cephalometric radiology [Molsted et al., 19921.
In photogrammetry from standard frontal and lat-
eral prints [Farkas, 1994b],60 of 100 surface measure-
ments were found to be obtainable. Only a third (the
projective linear and angular measurements) showed
acceptable values.
Lateral cephalometric radiographs with clearly visi-
ble soft-tissue profile contours offer reliable angles and
inclinations (at rest and in the standard FH position
of the head, respectively), but projective vertical linear
profile measurements are reliable only after proper
radiographic enlargement correction. The two-
dimensional nature of the prints and radiograms
makes it impossible to measure the tangential arcs or
their halves.
Although there is potential in 3D surface scans for
rapid and efficient measurements [Altobelli, 19941,
their reliability must be proven by comparing them
t o measurements obtained directly from flesh.
Twenty-one projective vertical and horizontal linear
measurements taken directly from the anterior surface
of 30 life-size moulages were compared to their 3D im-
ages and found to be virtually the same [BaCa et al.,
19941. The first study [Aung et al., 19951in which mea-
surements taken directly from the subject were com-
pared t o indirect measurements from 3D images was
carried out a t Singapore General Hospital, using Opti-
cal Surface Scanner equipment developed in England.
Of 83 projective and tangential linear measurements
taken from the anterior, lateral, and base views of the
faces of 30 young adults, 41 (49.4%)were found to be di-
rectly comparable, differing by <1 mm to 2 mm. The
laser scanning time ranged from 8 to 15 seconds per pa-

tient, but obtaining measurements from the images re-
quired an average of a further 25 minutes-about the
same as taking the measurements directly from the
face.
The Singapore study should encourage further stud-
ies testing the reliability of other scanning systems by
comparing the measurements obtained with linear and
angular measurements taken conventionally. Before
any final judgment about the usefulness of 3D surface
scans in medicine can be made, further comparative
studies showing their advantages and limitations must
be done.
A disadvantage of surface scanning as well as photo-
grammetry is that landmarks covered by hair (beards
or mustaches, as well as long hairstyles) are obscured.
Measurements taken between bony landmarks are at
variance with surface measurements because the tips
of the spreading caliper cannot be pressed to the sur-
face of the bony landmarks. The behavior of the patient
can also influence the quality of a photograph, radio-
gram, or 3D image.
Photogrammetry and cephalometry are costly in terms
of trained personnel. In addition, surface scanning re-
quires a substantial investment in equipment and soft-
ware, compared to direct anthropometry [Ward, 19941.
POPULATION NORMS
The validity of “abnormal” measurements depends
on comparison with proper population norms for indi-
vidual measurements and also for their mutual rela-
tionships (proportion indices). Norms collected must
correspond to the ethnic or racial origin of the study
group. Significant racial and ethnic morphometric dif-
ferences were reported for North American Caucasians
and African-Americans with respect to Chinese, as well
as between North American and European whites
[Hajnis’ et al., 19941. At present, norms are available
that have been developed for 132 craniofacial measure-
ments for North American Caucasians aged 1-18 years
[Farkas et al., 1994a1, for 108 measurements for young
adult African-Americans [Farkas et al., 1994~1,and for
111measurements for 6-, 12-, and 18-year-old Chinese
subjects [Farkas et al., 1994131.
THE VALUE OF QUANTITATIVE MEASURES
Quantitative diagnosis of anomalies is based on an-
thropometric measures (linear projective measure-
ments, arcs, angles, and proportions). Anomalies can be
expressed as dichotomous (present or absent) or contin-
uous, based on standard (2-1 scores using age-, sex-, and
ethnicity-specific normative data [Deutsch and Farkas,
1994; Deutsch and DAgostino, 19941. The power of
these quantitative operational definitions derives from
the fact that they are objective measures that may be
applied to patient groups with heterogeneous charac-
teristics (e.g., differing sexes and ages), facilitating
comparison across subjects and studies.
While the z-score is the favored method for evalu-
ating morphological changes in population studies
[Deutsch and Farkas, 19941,in surgical anthropometry
the usual method is a nonstatistical assessment of both
the preoperative and postoperative changes in mor-
I a< a surface measuring tool and its accuracy compared with direct
phology of the face.
Craniofacial Anthropometric Determination 3
NEW RESEARCH DEVELOPMENTS
It is now possible t o assign causation of some anom-
alies to specific genetic loci. Even in complex cases such
as contiguous gene disorders, which are now tractable
using molecular cytogenetic dissection [Ledbetter and
Cavenee, 1989; Deutsch, 19941, one can study the cor-
respondence between a genetic lesion and an abnormal
phenotype. Quantitative methods of diagnosis for spe-
cific defects provide the tools for delineating variable
expression and pleiotropy in craniofacial phenotypes.
The last decade has seen rapid advances in develop-
mental biology, with profound implications for under-
standing craniofacial morphogenesis. For some time,
there has been interest in using our growing knowledge
of embryology to study the underlying biology of abnor-
mality [Couly and Ledouarin, 1987,1990;Johnston and
Bronsky, 1994; Pinsky, 19851. Investigators have delin-
eated developmental factors such as the chronology of
maldevelopment [Cummings et al., 19821, derivation of
specific anomalies from embryonic primordia (anlagen)
[Moore and Persaud, 19931, and types of morphologic
alteration [Smith, 19821. One impediment to studying
these factors has been the lack of quantitative mea-
sures. Now that these measures are becoming avail-
able, it will be possible to study embryologically derived
combinations of individual anomalies, rather than sin-
gle anomalies of limited theoretical interest.
SUMMARY
Both the direct and indirect methods of anthropome-
try have their advantages and disadvantages. None
offers instant results: each method of examination re-
quires a certain amount of time, depending on the num-
ber of measurements and the sophistication of the mea-
suring technique. A substantial difference lies in the
cost of various examination methods.
These quantitative measures render the diagnosis of
abnormality objective and reliable. In addition to facil-
itating clinical documentation and research, they may
also provide the metrics needed for studying the under-
lying biology of morphologic abnormality.
ACKNOWLEDGMENTS
This paper was prepared with the assistance of Edi-
torial Services, The Hospital for Sick Children, Toronto,
Ontario, Canada. The authors thank Marko Katic, Bio-
statistician, Department of Research, Design and Bio-
statistics, University of Toronto, for his assistance with
this paper. This work was supported in part by grants
to C.K.D. from the National Institutes of Health
(MH45172 and MH31154), the March of Dimes Birth
Defects Foundation, the Alden Charitable Trust, and
Commonwealth of Massachusetts.
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