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Chiarella Sforza
Via Mangiagalli 31, 20133 Milano
www.scibis.unimi.it
Three-Dimensional Craniofacial
Features of Glut1DS
*BODINI Flexbone t.q bis (16 T) Tue Oct 16 10:25:02 2007 (GM T+02:00) T ue Oct 16 10:41:28 2007 (GM T+02:00)
40
60
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100%
T
Poly(methyl m ethacrylate)
20
40
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80
%T
HYDROXIDE; CALCIUM
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%T
500 1000 1500 2000 2000 3000
Wavenumbers (cm-1)
3D surface analysis
•Direct anthropometry
•3D Cephalometry (CT/ CBCT)
•Ultrasounds
•Magnetic resonance
•Electromagnetic systems
•Electromechanical systems
•Optoelectronic systems
•Moiré/ fringe light projectors
•Laser scanning
•Stereophotogrammetry
• Simple, easy to use
• Danger free
• Fast
• Easy-to-manage data
• Treatment visualization and
simulation
• Low cost
Conventional anthropometry
--single measurements
L.G. Farkas,
Anthropometry of the
head and face, 2nd Ed.
New York: Raven Press,
1994.
Simple, easy to use
Danger free
• Fast
• Easy-to-manage data
• Treatment visualization and
simulation
Low cost
3D surface analysis
•Direct anthropometry
•3D Cephalometry (CT/ CBCT)
•Ultrasounds
•Magnetic resonance
•Electromagnetic systems
•Electromechanical systems
•Stereophotogrammetry
•Moiré/ fringe light projectors
•Laser scanning
•Optoelectronic systems
• Simple, easy to use
• Danger free
• Fast
• Easy-to-manage data
• Treatment visualization and
simulation
• Low cost
Optical methods
Each object is seen in each istant by 2
TVCs (x, y): stereoscopic vision (x, y, z) Ras et al. J Dent 1996;24:369-74
Burke & Hughes-Lawson,
AJODO 1989;96:144-51
Stereophotogrammetry
Stereophotogrammetry
Hammond, Arch Dis Child 2007; 92:1120-6
Stereophotogrammetry
1. Calibration
2. Acquisition
3. Digital
reconstruction
Stereo-
photogrammetry
4. Landmark
digitization &
calculations
3D surface analysis
•Direct anthropometry
•3D Cephalometry (CT/ CBCT)
•Ultrasounds
•Magnetic resonance
•Electromagnetic systems
•Electromechanical systems
•Stereophotogrammetry
•Moiré/ fringe light projectors
•Laser scanning
•Optoelectronic systems Optical methods
Simple, easy to use
Danger free
Fast
• Easy-to-manage data ??
Treatment visualization
and simulation
• Low cost ??
Università degli Studi di Milano, via Festa del Perdono 7 (MM2 Duomo)
• 11 Glut-1 syndromic subjects
• Females, 3 – 32 years
• 205 control subjects
• 42 landmarks for each face (ears excluded)
Subjects & Methods
1. Landmark identification (skin)
2. Stereophoto
3. Landmark digitization (PC)
4. Calculations
a. Landmark to landmark distances,
ratios and angles (z-scores)
b. Principal Component Analysis
-3,000
-2,500
-2,000
-1,500
-1,000
-0,500
0,000
ex-ex en-ex R en-ex L area R eye area L eye en-ex^TH R en-ex^TH L
Eyes
Results - eyes
Reduced intercanthal
distance
Smaller eyes
Down-
slanted eyes
TH
Z-scores
-4,00
-3,00
-2,00
-1,00
0,00
1,00
2,00
3,00
sn-t pg-t sn-t/pg-t t-go t-go/sn-pg pg-go
Results - mandible
Shorter mandibular
ramus (posterior
facial height)
Longer mandibular
body
Z-scores
-4,00
-3,00
-2,00
-1,00
0,00
1,00
2,00
3,00
go-pg-go t-go-pg L t-go-pg R t-pg-t t-n^pg-go
Increased facial
divergence
Reduced facial depth
(mandible < maxilla)
Increased mandibular
convexity
Smaller gonial angles
Decreased lower
face convexityZ-scores
Principal Component Shape Analysis
i) Procrustes registration
ii) Intra group analysis (controls, Glut1)
iii) Inter groups analysis & stepwise linear regression
• 1st principal component:
24.9% of face variability
• 1st-9th components: 97%
of face variability
205 control subjects 11 Glut-1 subjects
• 1st principal component:
43% of face variability
• 1st-70th components:
99% of face variability
Glut1: more
homogenous faces
PC1 – control subjects explained variance: 43.6%
Mean Mean +2 SD Mean -2 SD
Vertical vs.
anterior-
posterior
development
of face;
prominent
nose/ lips;
mandibular
body/ ramus;
gonial angle
mm
PC1 – Glut1 subjects explained variance: 24.9%
Mean Mean +2 SD Mean -2 SD
Forehead;
nose
prominence;
facial width;
mandibular
ramus and
gonial angle;
chin
prominence
Glut1 vs. Control subjects
PCA:
• 1st principal component: 43% of face variability
• 1st-71st components: 99% of face variability
Stepwise linear regression: PC1, PC2, PC9
PC1 p < 0.000
PC2 p < 0.000
PC3 p = 0.009
PC6 p < 0.000
PC9 p < 0.000
PC11 p= 0.012
PC13 p = 0.004
PC14 p = 0.010
PC21 p < 0.000
PC22 p = 0.005
PC23 p = 0.028
PC36 p < 0.000
Stepwise linear regressionP
C9
PC
1
PC1
PC2 PC2
PC2
PC1
PC
9P
C9
Controls Glut1
Mean Mean +2 SD Mean -2 SD
PC1 – Glut1 vs control subjects explained variance: 43.6%
Glut1: high
forehead;
smaller eyes;
prominent
nose; short
mandibular
ramus; long
mandibular
body; small
gonial angle;
reduced chin
prominence
PC2 – Glut1 vs control subjects explained variance: 8.6%
Mean Mean +2 SD Mean -2 SD
Glut1: high
forehead;
smaller eyes;
reduced facial
depth;
increased
facial
divergence;
reduced chin
prominence
Reduced intercanthal distance
Smaller & down-slanted eyes
Reduced facial depth (mandible < maxilla)
Increased facial divergence
Longer mandibular body
Shorter mandibular ramus
Small gonial angles
Decreased lower face convexity
Increased mandibular convexity
More homogenous faces
High forehead
Smaller eyes
Reduced facial width and depth
Increased facial divergence
Prominent nose
Increased lip prominence
Short mandibular ramus
Long mandibular body
Small gonial angle
Reduced chin prominence
Glut1 vs control subjects
3D facial features
Landmark to landmark
measurements (z-scores)Principal Component Analysis
(facial shape)
Mandibular prognathism:
1p36; 1p22.3; 1p22.1; 1q32.2
Glut1DS: 1p35-31.3Am J Orthod Dentofacial Orthop 2014;145:757-62; J
Dent Res 2009;88:56-60; J Dent Res 2015;94:569-76
Photo: Vaclav Sedy, 2007
•Dr. Daniela Ciprandi
•Dr. Marina Codari
•Dr. Claudia Dolci
•Prof. Virgilio F. Ferrario
•Dr. Daniele M. Gibelli
•Giulia Andrea Guidugli
•Dr. Luca Pisoni
•Dr. Valentina Pucciarelli
•Francesca M.E. Rusconi
•Dr. Matteo Zago
Laboratorio di Anatomia Funzionale dell’Apparato Stomatognatico (1989)
•Prof. Alberto Battezzati, UniMI
•Dr. Simona Bertoli, UniMI
•Dr. Valentina De Giorgis, UniPV
•Prof. Pierangelo Veggiotti, UniPV
Photo Vaclav Sedy
Dipartimento di Scienze Biomediche per la Salute,
Milano, Italy
Laboratorio di Anatomia Funzionale dell’Apparato Stomatognatico &
Laboratorio di Anatomia Funzionale dell’Apparato Locomotore
www.scibis.unimi.it
Lat. 45.463671 - Long. 9.188126
-3,0
-2,0
-1,0
0,0
1,0
2,0
3,0
ex- ex en - en os-or en-ex os-or/ en-ex
area en-ex vs.TH
os-or vs.TH
os-or vs.FH
F Sudan M Sudan
F Italy M Italy
Larger deviations in Sudan than in
Italy; no sex differences.
Down syndrome
Flatter face, more acute
nasolabial angle,
prominent lips; less
deviations with more
teeth.
Ferrario et al. Am J Med Genet 2004; Sforza et al. Cleft Palate CJ 2004, 2006
Dellavia et al. Angle Orthod 2006, 2010; Eur J Oral Sci 2008
y = -0,033x + 1,788
R2 = 0,162
0,5
0,7
0,9
1,1
1,3
1,5
1,7
1,9
2,1
2,3
3 5 7 9 11 13 15 17 19 21 23 25
Total teeth
CVI
Hypohydrotic ectodermal dysplasia (OMIM #305100)
-1 -0,5 0 0,5 1 1,5 2
tr-n-tl
tr-prn-tl
tr-pg-tl
n-sn-pg
n-prn-pg
prn-sn-ls
area labbra
Moebius syndrome
Congenital facial palsy (facial nerve)
& impairment of ocular abduction
(abducens nerve) (OMIM %157900)
-2
-1,5
-1
-0,5
0
0,5
1
1,5
n-sn
-pg
n-pr
n-pg
ex-n
-ex
tr-n
ex-e
x t-t
Nos
e
t-pg-
tt-g
o
(t-go
)/(sn
-pg)
pg-(t
-t)
pg-(g
o-go
)
Man
dible
Man
d /M
ax
(sn-
ls)^
(li-p
g)
Smaller, more
prominent forehead
More prominent
and hyperdivergent
face (sagittal plane)
Smaller
maxilla &
nose Smaller mandible, less
prominent chin
Sforza et al. Eur J Oral Sci 2009;117:695–703;
It J Maxillofac Surg 2014;25:1-7
Photo: Vaclav Sedy, 2007