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Anthropometric evaluation of dysmorphology in craniofacial anomalies Treacher Collins syndrome.

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AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 74:441-451(1987)
Anthropometric Evaluation of Dysmorphology in Craniofacial
Anomalies: Treacher Collins Syndrome
J.C. KOLAR, I.R. MUNRO, AND L.G. FARKAS
Humana Advanced Surgical Institutes, Medical City, Dallas, Texas 75230
(J.C.K., LR.M.);Department ofsurgery, University of Toronto, and Division
ofPlastic Surgery, The Hospital for Sick Children, Toronto, Ontario (L.G.F.)
KEY WORDS
Anthropometry, Z-score
ABSTRACT
Advances in surgical techniques for correction of craniofacial
anomalies have necessitated the development of objective pre- and postoperative quantitative assessments. Standard anthropometric techniques, supplemented by additional methods oriented to specific clinical problems, have
proved useful in defining surface dysmorphology in craniofacial patients. A
series of 77 surface measurements of the head and face and 41 proportions
were determined in 20 preoperative patients with Treacher Collins syndrome,
a rare congenital defect of the first and second branchial arches. To permit
comparison with age- and sex-specific data for healthy North American children, the patient data were converted to standard (Z) scores. To test the
hypothesis Z = 0, Student’s t-test was performed on all variables. The anthropometric findings verified many of the clinical findings in this syndrome. In
addition, a number of previously unreported defects were found. The cranium
was low and short with a low, narrow forehead and a narrow cranial base. The
face was narrow and shallow, the mandible long and narrow, and the lower
face receding. The eye fissures were short with a n antimongoloid inclination,
but the orbits were hyperteloric. The nasal root was high and wide, the
nasofrontal angle open, and the bridge inclination low. The Iabial fissure was
narrow, and the ears were microtic. Except in the nasal root the defects were
hypoplastic. Most of these defects were either horizontal or anteroposterior.
Recognition of the defective areas and their contribution to disproportions of
the head and face is important in the development of surgical strategies.
Recent refinements in surgical correction
techniques necessitating objective pre- and
postoperative assessments have led to a proliferation of applications of quantitative
methods to the study of craniofacial anomalies. Anthropometric evaluation is part of the
routine craniofacial assessment process at
the Humana Advanced Surgical Institutes,
Dallas, and the Hospital for Sick Children,
Toronto. Gradually, standard anthropometric measurements (Martin, 1914; HrdliEka,
1920) have been augmented to address the
specific needs of the reconstructive craniofacia1 surgeon (Farkas, 1981; Farkas and
Munro, 1987). The teams’ standard anthropometric evaluation batteries now consist of
142 measurements of the head and face.
Control data have been established for
North American Caucasians from birth to
young adulthood: age- and sex-specific nor@ 1987 ALAN R. LISS, INC
ma1 values for 6- to 18-year-oldswere derived
from a study of 1,312 Toronto and Montreal
schoolchildren (Farkas, 1981); sex-specific
control values were developed for young
adults in several studies of young Torontonians (Farkas et al., 1984, 1985; Farkas and
Munro, 1987) (L.G. Farkas, unpublished
data); age- and sex-specific control data for
children under 6 years of age, derived from
West German norms (HajniB, 1974),were statistically adjusted to the North American
population (Csima and Szathmary, 1987).
Based on these control data, 56 standard ageand sex-specific proportion indices have been
constructed to describe the range of normal
relationships among the measurements (Table 1).
Received August 19,1986;accepted March 9,1987.
442
J.C. KOLAR, I.R. MUNRO, AND L.G. FARKAS
TABLE 1. Anthropometric evaluation battery
Variable and abbreviation'
Cranial measurements
Maximum cranial breadth (eu-eu)
Minimum frontal breadth (ft-ft)
Cranial base width (t-t)
Calva height (v-tr)
Anterior head height (v-n)
Special head height (v-en)
Auricular head height (right) (v-PO,r)
Auricular head height (left) (v-PO,1)
Head-upper face height (v-sn)
Craniofacial height (v-gn)
Forehead height I (tr-g)
Forehead height I1 (tr-n)
Maximum cranial length (g-op)
Head circumference
Forehead inclination
Proportions
Cephalic index (eu-edg-op)
Head width-auricular head height index (right)
(eu-edv-po,r)
Head width-auricular head height index (left)
(eu-edv-po, 1)
Frontobasal index (ft-ftk-t)
Frontozygomatic index (ft-ftizy-zy)
Calva-head height index (v-triv-n)
Forehead-head height index (tr-dv-n)
Head-craniofacial height index (v-dv-gn)
Special head-craniofacial height index
(v-edv-gn)
Facial measurements
Maximum facial breadth (bizygomatic breadth)
Infants to
young adults
Age group for control data
6-year-oldsto
young adults
Young adults
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
(ZY-ZY)
Bigonial breadth (go-go)
Supraorbital arc (t-g-t)
Maxillary arc (t-sn-t)
Mandibular arc (t-gn-t)
Supraorbital half arc (right) (g-t s, r)
Supraorbital half arc (left) (g-t s, 1)
Maxillary half arc (right) (sn-t s, r)
Maxillary half arc (left) (sn-t s, 1)
Lower subnasale-aural surface (right)
(sn-obi s, r)
Lower subnasale-aural surface (left)
(sn-obi s, 1)
Labio-aural surface (right) (ch-t s, r)
Labio-aural surface (left) (ch-t s, I)
Mandibular half arc (right) (gn-t s, r)
Mandibular half arc (left) (gn-t s, 1)
Lower gnathion-aural surface (right)
(gn-obi s, r)
Lower gnathion-aural surface (left)
(gn-obi s, 1)
Supraorbital-aural depth (right)(g-t, r)
Supraorbital-aural depth (left) (g-t, 1)
Upper face depth (right) (n-t, r)
Upper face depth (left) (n-t, 1)
Orbito-tragial distance (right) (ex-t, r)
Orbito-tragial distance (left) (ex-t, 1)
Orbito-gonial distance (right) (ex-go, r)
Orbito-gonial distance (left) (ex-go, 1)
Middle face depth (right) (sn-t, r)
Middle face depth (left) (sn-t, 1)
Lower subnasale-aural depth (right)
(sn-obi, r)
Data for Treacher
Collins patients
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
(continued)
443
DYSMORPHOLOGY IN TREACHER COLLINS SYNDROME
TABLE 1. A nthropometric eualuation battery (continued)
Variable and abbreviation
Lower subnasale-aural depth (left)
(sn-obi, 1)
Labio-aural depth (right) (ch-t, r)
Labio-aural deDth (left) (ch-t. 1)
Lower face depth (right) (gn-t, r)
Lower face depth (left) (gn-t, 1)
Upper gnathion-aural depth (right)
(gn-obs, r)
Upper gnathion-aural depth (left)
ign-obs, 1)
Lower gnathion-aural depth (right)
(gn-obi,r)
Lower gnathion-aural depth (left)
(gn-obi,1)
Total face height (tr-gn)
Face height (n-gn) Upper face height (n-sto)
Lower face height (sn-gn)
Mandible height (sto-gn)
Upper profile height (tr-prn)
Lower profile height (prn-gn)
Special upper face height (g-sn)
Special face height (en-gn)
Chin height (sl-gn)
Upper face inclination (g-sn)
Leiber inclination (g-1s)
Lower face inclination (sn-pg)
Lower third face inclination (li-pg)
Chin inclination (sl-pg)
General face inclination (g-pg)
Proportions
Facial index (n-gn/zy-zy)
Mandibulofacial index (go-go/zy-zy)
Upper facial index (n-sto/zy-zy)
Mandibular index (sto-gdgo-go)
Upper face-face height index (n-stoh-gn)
Lower face-face height index (sn-gdn-gn)
Mandibulofacial height index (sto-gdn-gn)
Upper-middle third face depth index (right)
(n-t, r/sn-t, r)
Upper-middle third face depth index (left)
(n-t, l/sn-t, 1)
Middle-lower third face depth index (right)
(sn-t, r/gn-t, r)
Middle-lower third face depth index (left)
(sn-t, Ugn-t, 1)
Upper cheek depth-height index (right)
(ex-t, r/ex-go, r)
Upper cheek depth-height index (left)
(ex-t, Uex-go, 1)
Mid-cheek-middle third face deDth index
(ch-t, I/sn-t, 1)
Lower face arcs index (t-sn-t/t-gn-t)
Chin-mandible height index (sl-gn/sto-gn)
Face-craniofacial height index (n-glv-gn)
Lower face-head height index (sn-gn/v-n)
Upper-lower profile index (tr-prlprn-gn)
Orbital measurements
Intercanthal width (en-en)
Biocular width (ex-ex)
Eye fissure width (right) (ex-en, r)
Eye fissure width (left) (ex-en, 1)
Eye fissure height (right) (ps-pi, r)
Eye fissure height (left) (ps-pi, 1)
Infants to
young adults
Age group for control data
6-year-oldsto
young adults
Young adults
X
X
X
Data for Treacher
Collins patients
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
(continued)
444
J.C. KOLAR, I.R. MUNRO, AND L.G. FARKAS
TABLE 1. Anthropometric evaluation battery (continued)
Variable and abbreviation
Upper lid height (right) (0s-ps, r)
Upper lid height (left) (0s-ps, 1)
Lower lid height (right) (pi-or, r)
Lower lid height (left) (pi-or, I)
Orbital-eyebrow height (right) (sci-or, r)
Orbital-eyebrow height (left) (sci-or, 1)
Eye fissure inclination (right) (ex-en)
Eye fissure inclination (left) (ex-en)
Orbital rim inclination (right) (0s-or,r)
Orbital rim inclination (left) (0s-or, I)
Proportions
Intercanthal index (en-eiex-ex)
Orbital index (ex-en, l/en-en)
Eye fissure index (ps-pi, liex-en, 1)
Biocular-skull base width index (ex-exit-t)
Intercanthoalar index (en-en/al-al)
Nasal measurements
Nasal root width (mf-mf)
Nasal width (al-al)
Columella width (sn’-sn’)
Ala thickness (right)
Ala thickness (left)
Nostril floor width (right) (sbal-sn, r)
Nostril floor width (left) (sbal-sn, 1)
Ala length (right) (ac-prn, r)
Ala length (left) (ac-prn, 1)
Ala surface length (right) (ac-prn s, r)
Ala surface length (left) (ac-prn s, 1)
Nose height (n-sn)
Bridge length (n-prn)
Nasal root height (right) (en-m’ sag, r)
Nasal root height (left) (en-m’ sag, 1)
Nasal root length (right) (en-m’, r)
Nasal root length (left) (en-m’, 1)
Columella length (right) (sn-c’, r)
Columella length (left) (snc’, 1)
Nasal tip protrusion (sn-prn)
Nasal bridge inclination
Nostril inclination (right)
Nostril inclination (left)
Bridge deviation (right)
Bridge deviation (left)
Columella deviation (right)
Columella deviation (left)
Nasolabial angle
Nasofrontal angle
Proportions
Nasal index (al-alhsn)
Nose height-biocular width index
(n-siex-ex)
Nose height-face width index (n-sdzy-zy)
Nasofacial index (n-sn/n-gn)
Nasozygomatic index (al-al/zy-ay)
Nasal root-nose width index (mf-mf/al-al)
Nasal tip protrusion-width index
(sn-prial-al)
Nasal root depth-intercanthal width index
(en-m’ sag, Uen-en)
Infants to
young adults
Age group for control data
6-year-oldsto
young adults
Young adults
Data for Treacher
Collins patients
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
(continued)
445
DYSMORPHOLOGY IN TREACHER COLLINS SYNDROME
TABLE 1. Anthropometric evaluation battery (continued)
Variable and abbreviation
Nasal root depth-tip protrusion index
(en-m’ sag, lisn-prn)
Nasal root-ala length index
(en-m‘,liac-prn, 1)
Nasal bridge index (n-prin-sn)
Orolabial measurements
Philtrum width (cph-cph)
Mouth width (ch-ch)
Labial fissure half length (right) (ch-sto, r)
Labial fissure half length (left) (ch-sto, 1)
Upper lip height (sn-sto)
Cutaneous upper lip height (sn-1s)
Cutaneous lateral upper lip height (right)
(sbal-ls’, r)
Cutaneous lateral upper lip height (left)
(sbal-ls’, 1)
Upper vermilion height (1s-sto)
Lower vermilion height (sto-li)
Cutaneous lower lip height (li-sl)
Lower lip height (sto-sl)
Upper vermilion arc (ch-1s-ch)
Lower vermilion arc (ch-li-ch)
Upper lip inclination (sn-1s)
Lower lip inclination (li-sl)
Mouth inclination
Proportions
Labial index (sn-stoich-ch)
Upper lip-nose height index (sn-stoin-sn)
Upper lip-mandible height index
(sn-stokto-gn)
Vermilion height index (1s-stoisto-li)
Cheilozygomatic index (ch-chhy-zy)
Lower liu index (sto-slich-ch)
Vermilion-cutaneous lower lip height index
(sto-li/li-sl)
Lower-upper lip index (stodsn-sto)
Lower lip-mandible height index
(sto-slisto-gn)
Lower lip-chin height index (sto-slid-gn)
Aural measurements
Ear length (right) (sa-sba, r)
Ear length (left) (sa-sba, 1)
Ear width (right) (pra-pa, r)
Ear width (left) (pra-pa, 1)
Ear insertion height (right) (obs-obi,r)
Ear insertion height (left) (obs-obi,1)
Ear protrusion (right)
Ear protrusion (left)
Ear inclination (right)
Ear inclination (left)
Ear location (right)
Ear location (left)
Proportions
Auricular index (pra-pa, lisa-sba, r)
Ear-face height index (sa-sba, lin-gn)
Infants to
young adults
Age group for control data
6-year-oldsto
young adults
Young adults
Data for Treacher
Collins patients
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
‘Landmarks and measurements have been described previously (Farkas, 1981; Farkas et al., 1984).
X
X
446
J.C. KOLAR, I.R. MUNRO, AND L.G. FARKAS
Fig. 1. Anteroposterior and lateral photographs of a
9-year-old male Treacher Collins patient showing the
typical dysmorphology presented in Table 2.
The present study is the first in a series
describing basic preoperative surface dysmorphology in a number of craniofacial syndromes currently being studied by the
craniofacial assessment team.
One of the rarest of the anomalies with
which the team is concerned is Treacher Collins syndrome, or mandibulofacial dysostosis, a defect of the first and second branchial
arches. The anomaly has been recognized for
140 years (Thomson, 1846).The first morphological description was by Berry (18891, who
described an affected mother and daughter.
The syndome was named for E. Treacher Collins (1900),who identified the marked malar
hypoplasia that is one of the major signs of
the anomaly (Fig. 1).
Research in the past 50 years has greatly
extended our knowledge of the craniofacial
morphology of this syndrome, based on qualitative studies (Franceschetti, 1944;Franceschetti and Klein, 1949; Klein, 1953; Rogers,
1964; Klimen, 1979; Smith, 1982) and radiographic analyses (Stovin et al., 1960; Garner,
1967; Dahl et al., 1975; Roberts et al., 1975)
(Table 2). One detailed cephalometric study
has been reported (Dagys, 1977),and a quantitative study of cranial base abnormalities
in Treacher Collins and other craniofacial
anomalies was published recently (Grayson
et al., 1985).
TABLE 2. Qualitative signs in Treacher Collins
svndrome
Malar deficiencies
Mandibular hypoplasia
Tongue-shaped hair extension onto cheek
Antimongoloid eye fissures
Lower eyelid coloboma
Lower lash deficiency
Relatively large nose
Open nasofrontal angle
Cleft palate
Ear defects
Malformed auricle
External ear canal
Conductive deafness
Quantitative assessment of craniofacial
anomalies is a recent development. So far,
four studies reporting such quantitative results in this syndrome have been published
(Farkas, 1978a,b; Farkas et al., 1981; Kolar
et al., 1985), all presenting only a limited
number of variables. This paper presents a
detailed statistical analysis of Treacher Collins syndrome based on our standard anthropometric evaluation battery.
MATERIALS AND METHODS
The study sample consisted of 20 preoperative patients (9 males and 11 females) with
I'reacher Collins syndrome, all North Amer-
DYSMORPHOLOGYIN TREACHER COLLINS SYNDROME
ican Caucasians ranging in age from two to
27 years. To permit comparison of the findings in this small group of patients who have
a rare anomaly with the age- and sexspecific
normal data, the patient data were converted
t o standard (Z) scores.
To test the hypothesis Z = 0, Student’s ttest was performed on all variables. Skewness of the Z-score distributions was calculated. Following Kreiborg (1981), a 0.01
confidence level with a Z-score range of k
1.20 was used to define a normal distribution.
The metric findings were intrepreted conservatively. This approach was taken for
three reasons. First, the patient sample is
small. In addition, control data for the standard anthropometric evaluation battery were
not available for all variables in all age
groups. Finally, not all measurements were
taken in all patients for whom normal control data were available, owing mainly to
lack of patient cooperation, particularly in
the youngest patients. We eliminated from
further analysis variables not reported in at
least half of the patients. A value of p < 0.01
was taken to indicate significant abnormalities.
The abnormal findings were divided into
two categories: highly significant (mean Zscore outside the range of +2.58), and significant (mean Z-score within this range but
statistically significantly different from normal). Student’s t-test was used to determine
whether differences in paired measurements
were significant.
RESULTS
By eliminating variables that were not reported in at least 10 of the 20 patients, we
reduced the number from 198 to 118 (77 measurements and 41 proportions).
The results of the Z-score analysis are presented in Table 3. Of the 77 measurements
evaluated, 46 (59.7%) differed significantly
from the controls. Highly significant differences accounted for 27 of the 46 abnormal
measurements. Of the 41 proportions examined, 17 (41.5%) differed significantly from
normals. Seven differences were highly significant. None of the 118 variables was
skewed.
Among the cranial variables, 7 of 12 measurements were significantly different from
the normal values. One of nine proportion
indices was significantly different.
In the face, the difference from the controls
was significant in 20 of 25 measurements,
447
highly significant in 18 of them, including
all 14 paired lateral facial depth measurements. Of 13 proportion indices, five were
significantly different, four of them highly
so.
Six of eight orbital measurements were significantly different from normal, four highly
significantly different. Only the heights of
the eye fissures were normal. Of five proportion indices, two showed significant differences.
In the nose, 8 of 18 measurements differed
significantly from normal, but only one difference was highly significant. Seven of 10
proportion indices differed significantly, four
highly significantly.
Only one of 10 orolabial measurements and
one of five porportion indices were significantly different from the control data. Neither difference was highly significant.
All four auricular measurements differed
highly significantly from the controls. One of
the two proportion indices was significantly
different.
No significant difference was found in any
paired measurement.
The highly significant differences are
shown in Table 4. For the lateral facial depth
measurements, the largest Z-score is given.
For other paired measurements, the larger of
the two Z-scores is shown. The quantitative
results are summarized in Table 5.
DISCUSSION
A comparison of the major qualitative features in Treacher Collins syndrome reported
in the clinical literature with our quantitative results indicates that most measureable
characteristics are confirmed by the anthropometric data; only the relatively large nose
is not apparent in our study. This study also
identified many other previously unreported
dysmorphologies. Abnormalities such as the
hair extension, lower lid defects, cleft palate,
and conductive deafness were not amenable
to anthropometric analysis.
Apart from defects of the external ear
canal, the clinical literature does not report
any abnormalities of the neurocranium in
this syndrome. In a previous study (Kolar et
al., 1985), we noted a narrow cranial base
width in the majority of these patients. The
present study indicates that this is the most
defective measurement. However, there are
also other slight abnormalities in the width
and height of the forehead, anterior cranial
height, and craniofacial height and circum-
448
J.C. KOLAR, I.R. MUNRO, AND L.G. FARKAS
TABLE 3. Abnormal dimensions and proportions in Treacher Collins syndrome
N
Mean
Z-Score
Minimum
Maximum
Probability
20
18
12
20
11
12
18
-1.88
-1.50
- 1.02
-0.98
-0.96
-0.92
-0.82
-5.30
-2.79
-2.49
-4.10
-2.36
-2.72
-2.42
+LOO
+0.87
+0.24
+0.50
+0.27
f0.14
+0.94
0.0001
0.0001
0.01
0.001
0.01
0.01
0.01
18
1-2.51
- 1.66
+5.56
0.0001
20
20
20
11
18
12
-3.35
-3.31
-2.99
-2.88
-1.11
-1.01
-7.23
-5.31
-5.66
-7.69
-3.21
-2.35
-1.30
0.0001
0.0001
0.0001
0.01
0.01
0.01
10
10
12
13
13
12
12
10
13
13
18
18
10
18
-4.30
-4.02
-3.77
-3.77
-3.61
-3.57
-3.53
-3.33
-3.29
-3.23
-3.14
-3.04
-3.03
-2.90
-6.63
-7.48
-5.79
-5.81
-6.02
-6.03
-5.25
-5.21
-5.98
-6.24
-7.81
-6.65
-7.11
-7.46
-2.06
-1.60
-1.53
-1.50
-1.48
-1.02
-1.29
-0.37
+0.19
-0.10
-0.02
-0.62
0.0001
0.0001
0.0001
0.0001
0.0001
0.0001
0.0001
0.0001
0.0001
0.0001
0.0001
0.0001
0.01
0.0001
20
18
20
20
12
+3.05
+3.03
+2.74
+2.04
+1.32
+1.36
-0.05
- 1.00
- 1.67
-0.10
+6.56
+9.56
+7.23
+8.96
+3.00
0.0001
0.001
0.0001
0.01
0.01
13
13
13
13
20
20
-4.02
-3.97
-3.21
-3.20
-1.31
+0.62
-11.94
-11.94
-7.85
-7.08
-3.44
-0.85
-1.41
-1.20
-0.29
-0.29
+0.11
+2.25
0.001
0.001
0.0001
0.0001
0.0001
0.01
13
20
-2.32
+1.91
-4.37
-0.20
-0.36
+4.64
0.0001
0.0001
11
-0.08
12
12
12
12
12
19
+2.70
+2.27
+1.93
+1.88
+ 1.57
- 1.43
+1.39
-1.16
+5.04
+4.37
+3.67
+4.27
+4.15
-0.30
+4.08
f0.63
0.001
0.0001
0.0001
0.0001
0.01
0.001
0.01
0.001
13
20
10
12
11
+3.01
+2.72
+2.68
+2.68
+2.56
+6.07
+4.38
+3.88
+5.39
+4.31
0.0001
0.0001
0.0001
0.001
0.0001
Cranial Dimensions
t-t
ft-ft
tr-n
g-op
v-n
"gn
Circumference
Cranial proportions
ft-ft/zy-zy
Facial dimensions
ZY-ZY
t-sn-t
t-gn-t
Lower face inclination
go-go
tr-gn
Lateral depths
gn-obi, r
gn-obi, 1
sn-t, r
sn-t s, r
gn-t s, r
n-t, r
gn-t, r
ch-t, r
sn-t s, 1
gn-t s, 1
sn-t, 1
n-t, 1
ch-t, 1
gn-t, 1
Facial proportions
n-gnizy-zy
sto-gdgo-go
n-stolzy-zy
sto-gn/n-gn
n-gdv-gn
Orbital dimensions
Eye fissure inclination, r
Eye fissure inclination, 1
ex-en, 1
ex-en, r
ex-ex
en-en
Orbital proportions
ex-eden-en
en-edex-ex
Nasal dimensions
mf-mf
Nasofrontal angle
en-m', r
en-m', 1
en-m' sag, 1
Nasal bridge inclination
en-m' sag, r
sn-prn
Nasal proportions
n-sdzy-zy
al-al/zy-zy
en-m'/ac-prn
en-m' sag, l/sn-prn
mf-mf
11
+0.78
+0.56
+0.27
-0.08
-3.38
-0.08
-3.00
t0.02
-0.80
+0.92
+0.10
+0.05
- 1.29
-0.53
+0.24
+LO3
1-0.47
-2.32
- 1.48
(continued)
449
DYSMORPHOLOGY IN TREACHER COLLINS SYNDROME
TABLE 3. Abnormal dimensions and proportions in Treacher Collins syndrome (continued)
n-sdex-ex
sn-prdal-a1
Orolabial dimension
ch-ch
Orolabial proportion
ch-clwzy-zy
Ear dimensions
sa-sba, r
pra-pa, r
pra-pa, 1
sa-sba, 1
Ear proportion
sa-sbdn-gn
N
Mean
Z-Score
Minimum
Maximum
Probability
13
19
+ 1.40
-0.94
+0.03
-2.78
+3.85
+1.48
0.001
0.01
20
-0.89
-2.21
+1.76
0.01
20
+1.33
-1.15
+3.89
0.01
19
19
19
19
-3.17
-3.04
-2.91
-2.70
-7.15
-11.35
- 10.24
-6.42
-0.22
+1.71
+0.72
-0.41
0.0001
0.01
0.01
0.0001
19
-2.47
-5.25
+0.36
0.0001
TABLE 4. The most significant dysmorphologies
in Treacher Collins syndrome
Variable
Measurements
Lateral facial depths
Eye fissure inclination
ZY -ZY
t-sn-t
ex-en
sa-sba
pra-pa
t-gr-t
Lower face inclination
mf-mf
Proportions
n-gnizy-zy
sto-gdgo-go
n-snlzy-zy
n-stolzy-zy
al-allzy-zy
en-m'lac-prn
en-m' sag/sn-prn
Mean Z score
-4.30
-4.02
-3.35
-3.31
-3.21
-3.17
-3.04
-2.99
-2.88
+2.70
+3.05
+3.03
+3.01
+2.74
+2.72
+2.68
+2.68
ference, all being below average. The discrepancy between the short anterior head height
and normal auricular head height most probably reflects the abnormal cranial base flexion reported in the cephalometric analysis
(Grayson et al., 1985).
The disproportion between the forehead
and face widths demonstrates that the hypoplasia of the malar region is relatively
greater than the narrowness of the forehead,
although both measurements are significantly below average.
Clinical reports of Treacher Collins syndrome emphasize the deficiency of the malar
region. This defect is evident from the highly
TABLE 5. Quantitative abnormalities in Treacher
Collins syndrome
Head
Low, short cranium
Narrow, low forehead
Narrow cranial base
Face
Shallow facial depth
Narrow face
Long, narrow mandible
Receding lower face
Orbits
Short, antimongoloid eye fissures
Hyperteloric orbits
Nose
High, wide nasal root
Open nasofrontal angle
Low nasal bridge inclination
Low nasal tip
Lips and Mouth
Narrow labial fissure
Ears
Microtic ears
significant reduction of the maximum facial
breadth in these patients. Apart from the
lateral facial depths, this is the most damaged measurement in the face. The other
clinically evident facial feature, mandibular
hypoplasia, is reflected in the small mandibular arc, subnormal inclination of the lower
face owing to the receding chin, and narrow
mandible. Also, the mandible height tends to
be increased (although only at the level of p
< 0.05) because of recession of the chin point
in the hypoplastic mandible.
In addition to mandibular hypoplasia, our
patients also exhibit maxillary hypoplasia,
450
J.C. KOLAR, I.R. MUNRO, AND L.G. FARKAS
as shown in the short maxillary arc and middle third face depths. The short total face
height reflects the short forehead previously
noted.
The paired lateral facial depth measurements are unusual. As Table 3 indicates, all
of these measurements are strikingly abnormal. They are the most damaged measurements in the entire craniofacial complex.
Other than one middle-third face-depth measurement in one patient, every lateral depth
distance in our patient sample is below average. Even the paired lateral measurements excluded from this study because of
small sample sizes show the same trend. Tensor analysis of the cranial base suggests an
explanation for this phenomenon. The abnormal kyphosis of the cranial base in Treacher
Collins syndrome reported by Grayson et al.
(1985) shifts the entire face posteriorly,
bringing it closer to the tragi, reducing the
measurements taken from the tragi t o the
facial midline.
The facial and upper facial indices reflect
the hypoplastic malar measurements in the
presence of normal vertical measurements.
The mandible is long relative to its width
and for the face length, but it is not absolutely long at the level of p < 0.01. The face
is long relative to the craniofacial height,
because of the short anterior head height.
In the orbital region, the defects of the
lengths and inclinations of the eye fissures
are highly significant. The eye fissures are
short and have a subnormal, or antimongoloid, inclination. The biocular distance is significantly shorter than in controls, while the
intercanthal distance is above average. This
combination produces a disproportionately
wide space between the eyes, or hypertelorism. The eye fissures also are short relative
to the intercanthal distance.
Except for a mildly, but significantly, reduced nasal tip protrusion, the defects in the
nose are concentrated in the nasal root, which
is high and wide with long sides. The high
nasal root results in an open nasofrontal angle, as reported in the clinical literature.
Combined with the below-average nasal tip
protrusion, the high nasal root produces a
low nasal bridge inclination.
The relatively large nose indicated in the
clinial literature is not evident in our quantitative findings. The apparent nasal disproportions are due mainly to defects in other
regions, such as the malar hypoplasia or narrow biocular distance. However, the nasal
root is relatively high and wide for the soft
nose. The appearance of a large nose is accentuated by the lack of a clear separation between the nose and the forehead, resulting
from the open nasofrontal angle produced by
the high nasal root.
The only abnormal measurement in the
orolabial region is a narrower than average
labial fissure. The proportion between the
mouth width and maximum facial breadth
again indicates the severe hypoplasia of the
malar region.
The ears are microtic in all our Treacher
Collins patients. The reductions in length
and width are proportionate, although the Zscore ranges indicate greater variability in
ear width than ear length. The ear rudiments were short relative to the face length.
In the 13 paired measurements the average measurements were shorter in the right
side than the left side, but there was no significant difference. These results reflect only
the normal asymmetry of the face (Farkas
and Cheung, 1981).
With one exception, the defects in Treacher
Collins syndrome are the result of hypoplastic development of the head and face. As Table 3 demonstrates, the mean Z-scores for
significantly differing measurements are
negative, except in the area of the nasal root,
including the intercanthal distance. In most
cases, even the maximum Z-score for a hypoplastic measurement is below average. In addition, the data indicate that most of these
defects are oriented either horizontally or anteroposteriorly (including lateral depth measurements). The only vertical defects are the
microtic ears and the short forehead.
Anthropometric analysis is a valuable tool
in our understanding of craniofacial anomalies. It can identify defective areas not immediately apparent from qualitative observation. As one of a variety of quantitative
methods, including cephalometry, biostereometrics, three-dimensional computer
imaging, and others, it offers the clinician
objective information about the nature and
extent of craniofacial defects that is necessary in the planning of corrective treatment.
ACKNOWLEDGMENTS
We thank the Medical Publications Department, The Hospital for Sick Children, for
their assistance in editing the manuscript.
Computer analysis was carried out by Ms.
Peggy Ng of the Clinical Research Support
Unit, Department of Preventive Medicine
DYSMORPHOLOGY IN TRE ACHER COLLINS SYNDROME
and Biostatistics, University of Toronto. This
investigation was supported by a grant from
the Physicians’ Services Incorporated Foundation, Willowdale, Ontario.
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