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JOBNAME: AUTHOR QUERIES PAGE: 1 SESS: 3 OUTPUT: Mon Sep 27 13:58:31 2010
/ ap aid2/z1k⫺moe/z1k⫺moe/z1k99908/z1k5549d08z
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a ilia ions. Please check he accu acy o he a ilia ion(s) o each au ho and make changes as
app op ia e.
a
Lec u e , Mas e ’s P og am in O hodon ics and Den o acial O hopedics, School o Den is y,
Uni e si y o Se ille, Se ille, Spain
b
Clinical Assis an in O al Su ge y, Uni e si y o Se ille, Se ille, Spain
c
P o esso o O al Su ge y, Depa men o S oma ology, Uni e si y o Se ille, Se ille, Spain
d
P o esso o Special Ca e Pa ien s, Depa men o S oma ology, Uni e si y o Se ille, Se ille,
Spain
e
P o esso o O hodon ics, Chai man o O hodon ics, Depa men o S oma ology, Uni e si y
o Se ille, Se ille, Spain
P o esso o O al Su ge y, Chai man o O al Su ge y, Depa men o S oma ology, Uni e si y
o Se ille, Se ille, Spain
AUTHOR QUERIES
AUTHOR PLEASE ANSWER ALL QUERIES 1
C anio acial cha ac e is ics in c i-du-cha synd ome
Rosa-Ma ía Yáñez-Vico, BDS, MSc,
a
Ángela Rod íguez-Caballe o, BDS,
b
Alejand o Iglesias-Lina es, DDS, MSc,
a
Noelia Gue a-López, BDS,
b
Daniel To es-Laga es, DDS, MSc,
c
Guille mo Machuca-Po illo, MD,
d
En ique Solano-Reina, MD, MSc,
e
and José-Luis Gu ié ez-Pé ez, MD,
Se ille, Spain
UNIVERSITY OF SEVLLE
Objec i e. The pu pose o his s udy was o analyze c anio acial cha ac e is ics om la e al head p o ile adiog aphs
o pa ien s wi h c i-du-cha (CdC) synd ome.
S udy design. The c anio acial mo phology o 10 CdC pa ien s was e alua ed using s anda d cephalome ic me hods,
measu ing 39 c anio acial a iables on cephalome ic x- ay images.
Resul s. The p incipal cha ac e is ics we e skele al class II malocclusion, caused by mandibula e ogna hism, den al
bip o usion, and a small uppe ai way. Addi ionally, 70% o pa ien s had a s eep pala al plane angle; he c anial base
angle was la ened, also in 70% o pa ien s.
Conclusions. Resul s indica ed ha he dele ion o 5p had an impac on he c anial base, maxilla, mandible, and
uppe ai way, causing dis inc i e ea u es o become appa en h ough i egula g ow h. (O al Su g O al Med O al
Pa hol O al Radiol Endod 2010;xx:xxx)
The c i-du-cha (CdC) synd ome, i s desc ibed by
Lejeune e al.,
1
is cha ac e ized by pa ial dele ion o
he sho a m o ch omosome 5. The size o he dele ion
anges om he en i e sho a m o egion 5p15 and 3
(5 o 40 Mb) only.
2,3
I s equency is es ima ed o be
be ween 1:15,000
4
and 1:50,000
5
o li e-bo n in an s,
bu he p e alence ound by Niebuh
4
in 6000 indi id-
uals wi h men al e a da ion was app oxima ely 1:350.
Fu he mo e, Schinzel’s da a
6
sugges ha i is he mos
common au osomal dele ion synd ome in humans.
The synd ome is cha ac e ized by a high-pi ched mono-
ch oma ic c y like he mewing o a dis essed ki en,
p obably because o anomalies o he la ynx and epiglo is
as well as neu ological, s uc u al, and unc ional al e -
a ions.
4
Addi ional clinical ea u es a e se e e psychomo-
o and men al e a da ion, g ow h delay, and hypo onia.
2,4
Al hough he cha ac e is ic c y is usually conside ed di-
agnos ic o he synd ome,
2
he ca like c y has been ound
wi hou he ypical dysmo phic and se e e de elopmen al
ea u es o he synd ome in indi iduals wi h he limi ed
5p15.3 dele ion.
2,7
C anio acial abno mali ies include mi-
c ocephaly, sligh hype elo ism, epican hal olds, down-
slan ing palpeb al issu es, s abismus, mal o med ea s,
and hypodon ia.
8,9
E en hough he clinical ea u es a e well known as he
esul o desc ip ions by se e al au ho s,
2,7,10
li le is
known abou c anio acial de elopmen . The e a e some
s udies based on an h opome ic da a, such as skull size,
inne can hal dis ance, and e ogna hia.
4,11,12
Mo e e-
cen ly, Kjae and Niebuh
13
in es iga ed he c anial base
o pa ien s wi h CdC synd ome using p o ile adiog aphs
and ound ha he condi ion in ol ed a mal o ma ion o
he c anial base. They poin ed ou ha his pa icula
c anial base egion de elops a ound he no ocho d, a he
loca ion whe e he hombencephalic-de i ed b ains em,
pons, and ce ebellum de elop do sally and whe e he
neu ons mig a e en ally o he la ynx. They sugges ed
ha a c anial de elopmen al ield, o igina ing a he no o-
cho d loca ion, is in ol ed in he mani es a ions o CdC
synd ome.
Cephalome ics in ol es he use o la e al head a-
diog aphs o measu e he skull and acial bones wi h
espec o speci ic e e ence poin s. I is use ul o
e alua ing and quan i ying g ow h and de elopmen
ea u es, such as he ela ionship be ween he jaws, and
be ween he jaws and he c anial bones. The pu pose o
This wo k was suppo ed by a g an o he Depa men o S oma ol-
ogy (CTS-523), awa ded by he Resea ch Ins i u e o he Uni e si y
o Se ille (Spain).
a
Lec u e , Mas e ’s P og am in O hodon ics and Den o acial O ho-
pedics, School o Den is y, Uni e si y o Se ille, Se ille, Spain.
b
Clinical Assis an in O al Su ge y, Uni e si y o Se ille, Se ille,
Spain.
c
P o esso o O al Su ge y, Depa men o S oma ology, Uni e si y
o Se ille, Se ille, Spain.
d
P o esso o Special Ca e Pa ien s, Depa men o S oma ology,
Uni e si y o Se ille, Se ille, Spain.
e
P o esso o O hodon ics, Chai man o O hodon ics, Depa men o
S oma ology, Uni e si y o Se ille, Se ille, Spain.
P o esso o O al Su ge y, Chai man o O al Su ge y, Depa men o
S oma ology, Uni e si y o Se ille, Se ille, Spain.
Recei ed o publica ion May 24, 2010; e u ned o e ision Jul 21,
2010; accep ed o publica ion Aug 20, 2010.
1079-2104/$ - see on ma e
© 2010 Published by Mosby, Inc.
doi:10.1016/j. ipleo.2010.08.021
e1
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his s udy was o analyze c anio acial cha ac e is ics on
la e al head p o ile x- ays in pa ien s wi h CdC syn-
d ome.
MATERIAL AND METHODS
Six een pa ien s om he Spanish C i-du-cha Asso-
cia ion and diagnosed wi h CdC synd ome by hei
espec i e e e ence hospi als belonging o he Public
Heal h Se ice we e selec ed om among pa ien s who
had unde gone some p ocedu e in he Depa men o
O al and Maxillo acial Su ge y a he Facul y o Den-
is y, Uni e si y o Se ille (Spain). Six o hese indi-
iduals we e excluded because he images showed poo
quali y and mo ion a i ac s; excluded subjec s we e
hose wi h se e e men al e a da ion who we e unable
o emain s ill du ing he x- ay exposu e. As a esul , 10
pa ien s—2 males and 8 emales wi h a mean age o
23.9 ⫾6.7 yea s—we e selec ed o he analysis. The
p esen s udy was ca ied ou wi h he ull knowledge
and w i en consen o each subjec and in acco dance
wi h he e hical p inciples go e ning medical esea ch
and human subjec s, as laid down in he Helsinki Dec-
la a ion (2002 e sion, h p://www.wma.ne /e/policy/
b3.h m). The da a ha e been ea ed wi h absolu e con-
iden iali y. Me hods o ga he ing and s o ing da a a e
subjec o he Spanish O ganic Law go e ning pe sonal
da a p o ec ion. The Expe imen al E hics Commi ee a
he Uni e si y o Se ille independen ly app o ed he
p ocedu e.
All subjec s we e pho og aphed and examined in a-
and ex ao ally o gene al medical and den al indings.
The p o ocol included gene a ing la e al cephalome ic
digi al x- ay images, a 70 kV, 12 mA, wi h an expo-
su e ime o 0.80 seconds (Odon o ama PC, T ophy,
Cedex, F ance). Speci ic so wa e (Nemo ec, Mad id,
Spain) was used o he digi al images om which
c anio acial and den al measu emen s we e aken. An-
a omical landma k coo dina es we e de ined and sum-
ma ized as shown in Table I. C anio acial bones and
ela ionships we e measu ed a e being classi ied in o
4 g oups: ai way analysis, skele al p oblems, den al
p oblems, and es he ic p oblems. This classi ica ion
p o ides use ul in o ma ion o de e mining which, i
any, de elopmen al ield is a ec ed in CdC synd ome.
In each g oup, angula and linea measu emen s we e
assessed and quan i ied o his pu pose, as shown in
Table II. Measu emen s ob ained om subjec s wi h he
CdC synd ome we e compa ed wi h s anda d measu e-
men s p o ided by he speci ic so wa e we used, and
s anda d de ia ions calcula ed on he basis o s anda d-
ized age, sex, and ace no ms. Cephalome ic analysis
me hods by S eine ,
14,15
Ricke s,
16
Ja aback and Fiz-
zel,
17
and McNama a
18
we e used o ob ain s anda d
measu emen s. The measu emen s e e ed o p e i-
ously co espond o he mos ep esen a i e and widely
used me hods acco ding o o hodon ic and c anio acial
esea che s. The co espondence be ween cephalome -
ic analyses and measu emen s used a e also shown in
Table II. In aobse e e o was calcula ed o he
sample, which was wice es ed. I was calcula ed in he
ollowing way: SE ⫽公(⌺d2/2n), whe e d is he di -
e ence be ween he double measu emen s and n is he
numbe o pai ed double measu emen s. I was e alu-
a ed using he S uden es o pai ed samples, wi h
absence o signi icance ega ded as indica i e o con-
co dance be ween mean alues. The da a ob ained we e
analyzed using SPSS 17.0 so wa e o Windows
(LEAD Technologies, USA).
RESULTS
The accu acy o in aobse a ional e o was 0.41
mm o linea measu emen s and 0.63° o angle mea-
su emen s. The e we e no s a is ically signi ican di -
e ences be ween o iginal and epea measu emen s
(P⬎.05).
Ai way analysis emphasized he educed olume in
he uppe espi a o y ac (Table III). The g ea majo -
i y o he acial pa e n measu emen s included sha ed
meso acial cha ac e is ics. Howe e , he e a e pa ame-
e s ha demons a e an ob ious e ical componen in
he g ow h o s udy subjec s, such as a dec eased uppe
gonial angle and an inc eased lowe gonial angle. By
con as , we also ound an inc eased an e io acial
heigh ( he dis ance be ween he nasion and men on
landma ks). In con as , s anda d measu emen s we e
ound o lowe acial heigh (ans-xi-pm) and an e o-
in e io acial heigh (Na-me) (Table III).
An inclined pala al plane was ound o be a s anda d
ea u e o he analyzed subjec s. S a is ical equencies
o his a iable show ha only 30% o subjec s had
s anda d measu emen s and 70% had a ma ked slope.
These da a ep esen one o he mos cha ac e is ic
ea u es o CdC synd ome (Table IV).
Measu emen s o he an e io and pos e io c anial
base showed ha bo h we e educed compa ed wi h
es ablished age, sex, and acial no ms. Howe e , in
70% o cases, he c anial base angle (s-na-ba) was la ge
(Table V) when compa ed wi h age- ela ed s anda ds
o no mal indi iduals.
19-21
Sagi al skele al ea u es
a e all consis en wi h skele al class II malocclusion
caused by mandibula e ogna hism (Table III).
Wi h ega d o den al cephalome ic da a, we ound
den al bip o usion, p o uding lowe inciso s, and ou -
wa d-p o uding uppe inciso s (Table III).
The main es he ic p oblem obse able om he ceph-
alome ic acing was he p esence o a sho uppe lip
wi h a igh nasolabial angle. The lowe lip no mally
p o uded (Table III).
OOOOE
e2 Yáñez-Vico e al. Mon h 2010
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103
104
105
106
107
108
AQ: 1
T1
T2
AQ: 2
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
101
102
103
104
105
106
107
108
AQ: 3
T3
T4
T5
DISCUSSION
C i-du-cha synd ome was i s desc ibed in 1963 by
Lejeune e al.,
1
who comp ehensi ely explained he
common clinical mani es a ions. Since hen, he li e a-
u e has e e ed o pa ien s wi h CdC as exp essing
c anio acial ea u es ha include hype elo ism, an i-
mongoloid obliqui y o he palpeb al issu es, and a
moon ace. Radiological ea u es, such as mic oenceph-
aly and aul y long bone de elopmen ha e also been
desc ibed. Many au ho s ha e epo ed on he clinical
and adiological indings associa ed wi h his syn-
d ome
8,10,13,22-25
; none, howe e ha e measu ed
c anio acial ea u es in ol ing he maxilla y and man-
dibula bones.
In CdC synd ome, he mono onous, high-pi ched c y
like a ca is p obably he mos cha ac e is ic and s ik-
ing clinical ea u e.
26
This has also been ound in
ce ain kinds o diso de s o neu ological diseases.
4
Mo phologic la yngeal al e a ions, such as a small
loppy, cu ed epiglo is,
27
la yngeal hypoplasia, a na -
ow, diamond-shaped o quad angula la ynx, o an
abno mal ai space in he pos e io a ea du ing phona-
ion,
28
ha e all been said o esul in his cha ac e is ic
c y. Ai way analysis ound a na ow uppe ai way
olume, con i med by compu ed omog aphy s udies.
22
Ne e heless, subsequen s udies es ablished ha such
ana omical al e a ions we e no necessa ily p esen in
e e y pa ien and he exis ence o some o he o ganic o
unc ional ac o was no being conside ed.
4
Thus, he
s a is ical equency o a ma kedly inclined pala al
plane, ound in 70% o he subjec s, sugges s ha i is
a cha ac e is ic ea u e and p obably in ol ed in he
Table I. Ana omical landma ks used
Poin De ini ion
Sella (S) Poin ep esen ing he cen e o he pi ui a y ossa
Nasion (Na) Mos an e io poin o he on onasal su u e on he midplane
Basion (Ba) Mos pos e o-in e io poin o he cli us
A icula e (A ) The in e sec ion be ween he ex e nal con ou o he c anial base and he do sal con ou o he condyla head
o neck.
Tangen -gonion ( go) The poin o in e sec ion be ween he base and he amus angen s h ough gna ion and a icula e
Men on (Me) The lowes poin o he jaw a he le el o he midsagi al plane o he symphysis
Condylion (Co) The uppe mos poin o he mandibula condyle
A poin (A) The mos pos e io poin on he an e io con ou o he uppe al eola p ocess
Gna ion (Gn) The mos in e io poin on he mandibula symphysis
Pogonion (Pg) The mos an e io poin on he mandibula symphisis
Apex supe ius (As) The apex o he oo o he mos p ominen maxilla y cen al inciso
Inciso su pe ius (Is) The midpoin o he incisal edge o he mos p ominen maxilla y cen al inciso
Inciso in e ius (Ii) The midpoin o he incisal edge o he mos p ominen mandibula cen al inciso
Apex in e ius (Ai) The apex o he oo o he mos p ominen mandibula cen al inciso
Psps poin (psp) The mos pos e io poin on he so pala e
Ppws poin (ppws) Closes poin on he pos e io o pha yngeal wall o psp poin
Pb poin (pb ) In e sec ion o he pos e io bo de o he ongue and he in e io bo de o he mandible
Ppwi poin (ppwi) Closes poin on he pos e io o pha yngeal wall o pb poin
Pm poin (pm) The poin whe e he cu a u e o he an e io bo de o he symphysis changes om conca e o con ex
Xi poin (Xi) A poin loca ed a he cen e o he amus
P e igomaxilla e (P ) The in e sec ion poin o he in e io bo de o he o amen o undum and he pos e io wall o he
p e igomaxilla y issu e
Gonion (Go) The lowes , mos pos e io poin on he gonial angle o he mandible
Po ion (Po) The mos supe io poin on he adiolucency o he ex e nal and in e nal audigo y mea i. I is loca ed
pos e io o he mandibula condyle and pos e io cli us.
O bi ale (O ) The mos in e io poin on he lowe bo de o he bony o bi
CF poin (CF) The in e sec ion poin o he FH plane (F ank o ho izon al plane: a line connec ing he Po and O poin s)
and he PTV plane (P e ygoid e ical plane: a line pe pendicula o he FH plane ho ugh he PT poin ).
An e io nasal spine (ANS) The apex o he an e io nasal spine
Pos e io nasal spine (PNS) The mos pos e io poin on he bonu ha d pala e in he midsagi al plane
S omion supe ius (S s) The lowes midline poin o he uppe lip
B poin (B) The deepes poin on he con ou o he mandible
So isue pogonion (Pg´) The mos p ominen poin on he so issue con ou o he chin in he midsagi al plane
Lab ale supe ius (Ls) The poin deno ing he e million bo de o he uppe lip in he midsagi al plane
Lab ale in e ius (Li) The poin deno ing he e million bo de o he lowe lip in he midsagi al plane
Subnasale (Sn) The poin in he midsagi al plane whe e he base o he columella o he nose mee s he uppe lip
Columela nasal medium (Nm) Geome ic cen e on columela o de subnasal poin o he ip o he nose
Cen e o c anium (Ce) The in e sec ion poin o he Ba-Na plane and he acial axis plane
Condyle (Dc) The poin in he cen e o he condyle neck along Ba-N plane
OOOOE
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