CIinicaI anaIysis based on 208 patients with microtia

{especiaIIy reviewed ocuIo-auricuIo-vertebraI spectrum,

hearing test, CT scan)
Lci }in, Shao|uan Hao, Yaoyao Iu, Tianyu Zhang, Zhcngmin Wang
Department cj Otcr|inc|aryngc|cgy, Head and Neck Surgery, Fye and FNT Hcspita| cj Fudan University, S|ang|ai,
C|ina
5LMMARY: )in L, Hao 5), Fu YY, Zhang TY, Wang ZM. CIinicaI anaIysis based
on 208 patients with microtia {especiaIIy reviewed ocuIo-auricuIo-vertebraI
spectrum, hearing test, CT scan). Turk ) Pediatr 2010, 52: 582-587.
Microtia is a common birth detect and characteristic ot abnormaI auricIe.
It can be isoIated or occur as a part ot syndromes invoIving the tirst and
second bronchiaI arch structures, such as ocuIo-auricuIo-vertebraI spectrum.
We conducted a caretuI review ot the Iiterature regarding the cIinicaI teatures
ot patients with microtia, but tound tew studies with respect to the Chinese
popuIation. In this study, we epIored the cIinicaI teatures ot a singIe cIinic
popuIation ot 208 Chinese individuaIs with microtia. It showed that 15 cases
{7.2%) had been attIicted with middIe ear choIesteatoma, which wouId have
brought about risky compIications without an immediate removaI, that 12
ot 68 contraIateraI, normaI-appearing ears had presented miId to moderate
conductive or combined hearing Ioss {21-70 dB), that the degree ot hearing
Ioss deteriorated as the grade ot microtia increased, with signiticant ditterences
between grades I and III {p<0.05), and that there was a maIe predominance,
with the right side more IikeIy to be attected.
Kcy words. microtia, oculoauriculovcrtcbral spcctrum, cbolcstcatoma, bcaring loss,
Cbina.
MicioLia is a common biiLh dclccL and
chaiacLciisLic ol an abnoimal auiiclc. IL can
bc isolaLcd oi occui as a paiL ol syndiomcs
involving Lhc liisL and sccond bionchial aich
sLiucLuics, such as Lhc oculo-auiiculo-vciLcbial
spccLium (OAVS) (Iig. 1). Thc picvalcncc ol
micioLia is icpoiLcd Lo bc 0.S3/10000-17.4/
10000
1-7
, wiLh 1/5600 LhoughL Lo bc Lhc bcsL
csLimaLc. MosL ol Lhc cascs aic spoiadic, and
appioximaLcly 2% ol paLicnLs caiiy a posiLivc
lamily hisLoiy
S
. RcpoiLcd iisk lacLois ol micioLia
includc maLcinal diabcLcs

, mcdicaLion usc
duiing Lhc liisL Lwo monLhs ol gcsLaLion
10
,
cxposuic Lo chcmical agcnLs
11
, inLiacyLoplasmic
spcim in|ccLion (ICSI) picgnancy
11-13
, Lwin
picgnancy
12, 13
, and high paiiLy
5
. IuiLhcimoic,
gcncLic lacLois aic likcly Lo bc icsponsiblc loi
somc cascs
14-16
. Howcvci, Lhc molcculai basis
ol Lhis condiLion icmains unknown.
Tcmpoial compuLcd Lomogiaphy (CT) scan is
pciloimcd Lo dcLccL middlc cai anomalics in
micioLia paLicnLs, and masLoid bonc sclciosis,
dcloimcd ossiclcs and aLicsia ol Lhc cxLcinal
audiLoiy canal aic Lhc mosL common lindings
11
.
In addiLion, puic Lonc audiomcLiy oi biainsLcm-
cvokcd icsponsc audiomcLiy can noL bc ignoicd
bccausc conducLivc hcaiing loss is licqucnL
17
.
Howcvci, Lhc iclaLionship bcLwccn Lhc dcgicc
ol micioLia and audiLoiy luncLion is scldom
considcicd.
Wc pciloimcd a caiclul icvicw ol Lhc liLciaLuic
icgaiding Lhc clinical lcaLuics ol Lhosc wiLh
micioLia. UnloiLunaLcly, wc lound lcw sLudics
wiLh icspccL Lo Asians and paiLiculaily Lo
Lhc Chincsc populaLion. Considciing iacial
dillcicnccs, wc hypoLhcsizcd LhaL iLs clinical
lcaLuics in Chincsc cascs mighL dillci liom
Lhosc in oLhci populaLions. Thus, wc cxploicd
Lhc clinical lcaLuics ol a singlc clinic populaLion
ol 20S Chincsc individuals wiLh micioLia, and
madc a compaiison againsL Lhosc ol picvious
sLudics. Wc also invcsLigaLcd Lhc licqucncy ol
T|e Turkis| }curna| cj Pediatrics 2010, 52. 582-587 Origina|
middlc cai cholcsLcaLoma in micioLia paLicnLs
as wcll as Lhc iclaLionship bcLwccn Lhc dcgicc
ol micioLia and audiLoiy luncLion.
Thc sLudy was appiovcd by Lhc ELhics
CommiLLcc ol Lhc Eyc and Eai, Nosc and
ThioaL (E&ENT) HospiLal ol Iudan UnivcisiLy
in Lhc ciLy ol Shanghai.
MateriaI and Methods
Patients
Wc cvaluaLcd Lhc clinical daLa ol 211 paLicnLs
who wcic admiLLcd bcLwccn ScpLcmbci 2007
and }uly 200 loi auiiclc icconsLiucLion
oi hcaiing pioblcm in Lhc DcpaiLmcnL ol
OLoihinolaiyngology, E&ENT HospiLal ol
Iudan UnivcisiLy. Ol Lhcsc cascs, Lhicc wcic
cxcludcd loi Lhcii diagnoscs ol Ticachci Collins
syndiomc (TCS), and Lhc icsL, ol Han cLhniciLy,
who picscnLcd ciLhci micioLia oi picauiiculai
Lags wiLh hcmilacial miciosomia, wcic includcd.
Thc sub|ccLs whosc iclaLivcs had micioLia oi
picauiiculai Lags/sinuscs wcic caLcgoiizcd as
lamilial micioLia. Ioi a compaiaLivc analysis,
wc dclincd bilaLcial involvcmcnL as picscncc
ol such signs as micioLia oi picauiiculai
Lags/sinuscs on boLh sidcs. Thc daLa availablc
loi oui analyscs wcic Lhc iccoids ol 20S
(100%) paLicnLs liom Lhc HospiLal, Lhc lacial
phoLogiaphs ol 156 (75%), Lhc icsulLs ol puic
Lonc audiomcLiy ol 103 (4.5%) (206 cais), and
Lcmpoial CT scan icsulLs ol 107 (51.4%).
CIassitication
Wc classilicd all Lhc paLicnLs (516 cais) inLo
Lhicc giadcs againsL Maix's widcly uscd
classilicaLion sysLcm as: giadc I, an abnoimally
small auiiclc wiLh mosL anaLomical sLiucLuics
iccognizablc, giadc II, somc sLill iccognizablc,
and giadc III (Lhc pcanuL-shcll Lypc), only a
iudimcnL ol solL Lissucs picscnL. Thosc wiLh
picauiiculai Lags accompanicd by hcmilacial
miciosomia wcic icgaidcd as micioLia giadc
I, and Lhc conLialaLcial cais ol unilaLcially
allccLcd cascs wcic classilicd as giadc 0.
ResuIts ot Pure Tone Audiometry
Puic Lonc avciagcs wcic calculaLcd loi cach
cai using aii conducLion dccibcls aL 0.5, 1
and 2 kHz.
SLaLisLical Analysis
To vciily Lhc hypoLhcsis LhaL Lhc scvciiLics ol
Lhc ouLci cai malloimaLions and conducLivc
hcaiing loss wcic paiallcl, wc pciloimcd onc
way ANOVA Lo compaic Lhc mcan valucs ol
audiomcLiy bcLwccn dillcicnL micioLia giadcs.
Wc also conducLcd a T-LcsL Lo compaic Lhc
mcan valucs ol audiomcLiy in conLialaLcial cais
wiLh 20 dB, Lhc low limiL ol noimal hcaiing.
ResuIts
CIinicaI Data
Thc agc ol Lhc 20S paLicnLs iangcd liom 3
monLhs Lo 31 ycais, and 6.7% ol Lhcm wcic
malc. Rcgaiding Lhc laLcialiLy, 56.6% ol Lhc
unilaLcially allccLcd cais wcic iighL-sidcd. A
LoLal ol 141 (67.S%) ol 20S paLicnLs wcic
isolaLcd cascs and Lhc oLhcis occuiicd wiLh
hcmilacial miciosomia oi oLhci malloimaLions,
such as cyc and vciLcbial dclccLs. Thc main
clinical lcaLuics wcic classilicd inLo six
caLcgoiics (Iig. 2).
Fig. 1. PhoLogiaphs ol casc No. 154 (lcmalc, S monLhs old).
Lett ear: onc picauiiculai Lag, micioLia giadc I.
RighL ear: micioLia giadc III. RighL-sidcd hcmilacial
miciosomia wiLh smallci iighL cyc, lclL cpibulbai lipoma
and ccivical scoliosis.
Fig. 2. Clinical lcaLuics ol 20S paLicnLs.
Vc|ume 52 Numoer 6 Micrctia/OAVS in C|inese C|inic Pcpu|aticn 5S3
Eyc dclccLs includcd cpibulbai lipoma (3/),
nysLagmus (2/) and Liopia (4/). Only 2
cascs wcic diagnoscd as ccivical scoliosis and
1 casc as congcniLal vcnLiiculai scpLal dclccLs.
Wc also lound such clinical malloimaLions as
lacial paialysis in 4 cascs, clclL lip and palaLc
in 2, lip hcmangioma in 1 and icnal hypoplasia
in 1. Nonc ol oui paLicnLs was conccivcd by
ICSI and Lhcic wcic 2 dizygoLic Lwin paiis. Wc
compaicd oui daLa wiLh Lhosc ol Lhc picvious
sLudics (Tablcs I, II).
FamiIiaI Data
Ol 20S paLicnLs, 1S6 wcic spoiadic and 21
caiiicd a lamily hisLoiy. MosL allccLcd iclaLivcs
showcd picauiiculai Lags/sinuscs as Lhc only
manilcsLaLion, and 2 moLhcis picscnLcd Lhc
samc giadc ol micioLia as Lhcii daughLcis,
suggcsLing LhaL gcncLic lacLois wcic icsponsiblc
loi somc micioLia cascs.
Hearing Function
Aii conducLion icsulLs ol puic Lonc audiomcLiy
wcic availablc loi analysis in 103 paLicnLs (206
OAVS: Oculo-auiiculo-vciLcbial spccLium.
PaLicnL-bascd sLudy
PublicaLion ycai 2007 1 16 15
PopulaLion China Iinland Mcxico }apan USA
N 20S 10 145 52 2
Malc 6.7% 5S% 60% 64.7% 5.S%
BilaLcial 34.6% 11.5% 25% .1% 16.5%
LaLcialiLy 56.6% iighL 5.5% iighL 6.% iighL 5S.4% iighL 6S.4% iighL
Auial sLcnosis S.6% 3% 54.% 2%
Picauiiculai sinuscs/Lags 14.4% 33.5% 17.% 13% 25%
Mandibulai dysplasia 2S.4% 40% 4.6% 10.%
VciLcbial dclccLs 2/20S 22.4%
Eyc dclccLs /20S 0% 2/52
Caidiac dclccLs 1/20S 11% 4.1%
Iamilial cascs 10.1% 14.4% 33.S% 2.5-3.5% .S%
Rclcicncc 1 1S 22 20
TabIe I. ChaiacLciisLics ol MicioLia/OAVS in DillcicnL PopulaLions (1)
5S4 }in L, et a| T|e Turkis| }curna| cj Pediatrics Ncvemoer-Decemoer 2010
PopulaLion-bascd sLudy
PublicaLion ycai 200 2005 2004 2000 17 16 15 1S6
PopulaLion Columbia Hawaii USA China Vcnczucla
Iiancc/
Swcdcn/
Caliloinia
ILaly
SouLh
Amciica
N 27 120 54 453 3S 54 156 1S4
Malc 63% 56.5%
No scx
dillcicncc
63%
Malc
cxccss
No scx
dillcicncc
BilaLcial 20.2% 1S% 1S.5% 14.7%% .3%
LaLcialiLy
64%
iighL
61%
iighL
57.1%
iighL
62.7%
iighL
Auial aLicsia/
sLcnosis
75.5%
(aLicsia)
VciLcbial dclccLs 14.% 12.5%
Eyc dclccLs 3.6% 46.S% 5.6%
Caidiac dclccLs 20.7% 32.4% 3.5% 12.1% 31.3%
Rclcicncc 21 2 3 4 23 5 6 7
TabIe II. ChaiacLciisLics ol MicioLia/OAVS in DillcicnL PopulaLions (2)
OAVS: Oculo-auiiculo-vciLcbial spccLium.
cais). Mixcd hcaiing loss was dcLccLcd in 55
(53.4%) paLicnLs and conducLivc hcaiing loss
in Lhc icsL. Two hundicd and six cais wcic
caLcgoiizcd inLo loui gioups (giadc 0-III) as
lollows: 6S giadc 0, 32 giadc I, 24 giadc II,
and S2 giadc III. Wc uscd onc way ANOVA
Lo compaic mcans ol audiomcLiy bcLwccn
dillcicnL micioLia giadcs, and Lhc sLaLisLical
icsulLs showcd LhaL hcaiing loss dcLciioiaLcd as
Lhc giadc ol micioLia incicascd, wiLh signilicanL
dillcicnccs bcLwccn Lhc mcans ol giadc I and
giadc III (p<0.05). InLcicsLingly, 12 ol 6S
conLialaLcial, noimal-appcaiing cais showcd
mild Lo modciaLc conducLivc oi mixcd hcaiing
loss (21-70 dB). Howcvci, T-LcsL showcd
no signilicanL dillcicnccs bcLwccn Lhc mcan
dccibcls ol giadc 0 and 20 dB (p>0.05).
CT Scan Rcsults
Wc cvaluaLcd Lcmpoial CT scan icsulLs ol 107
(51.4%) paLicnLs, linding such abnoimaliLics as
aLicsia ol Lhc cxLcinal audiLoiy canal, middlc
caviLy anomaly, dcloimcd ossiclcs, loss ol
pncumaLizaLion ol masLoid ccll, and middlc
cai cholcsLcaLoma (Iig. 3).
Discussion
MicioLia and OAVS shaic similai clinical
cxpicssions and Lhc iclaLionship bcLwccn Lhcm
icmains unclcai. AlLhough Lhc Lcim OAVS was
oiiginally uscd Lo dcsciibc Lhosc wiLh micioLia,
mandibulai hypoplasia, vciLcbial dclccLs,
and oculai abnoimaliLics, many picvious
sLudics suggcsLcd using isolaLcd micioLia
S,17,1S
,
picauiiculai Lags in associaLion wiLh hcmilacial
miciosomia
S
oi mulLiplc acccssoiy Liagi
1
as Lhc
mildcsL cxpicssion ol OAVS. In oui opinion,
as Lhc cxLcinal cai, middlc cai, mandiblc, and
ccivical spinc aic all dciivcd liom Lhc liisL
and sccond bianchial aichcs, LciaLogcncsis
ol Lhcsc sLiucLuics is naLuially inLciiclaLcd,
and Lhus OAVS should bc a bioad spccLium
ol anomalics, ianging liom isolaLcd micioLia
Lo Goldcnhai syndiomc (OMIM 164210). All
Lhc paLicnLs in Lhis sLudy picscnLcd ciLhci
micioLia oi picauiiculai Lags wiLh hcmilacial
miciosomia, lullilling Lhc minimal diagnosLic
ciiLciia ol OAVS abovc. Thc inlanL shown
in Iig. 1 icpicscnLs a Lypical paLicnL wiLh
OAVS.
Thcic havc bccn quiLc a lcw paLicnL-bascd
sLudics as wcll as populaLion icgisLci icpoiLs
on Lhc chaiacLciisLics ol micioLia paLicnLs. Malc
picdominancc has bccn icpoiLcd cxccpL in Lhicc
sLudics
4, 6, 11
. In oui sLudy, Lhc malc cascs
accounLcd loi 6.7%, which was consisLcnL wiLh
Lhc phcnomcnon ol malc picpondciancc
1,3,5,1S,20-
23
. RighL-sidc picdominancc as Lhc laLcialiLy
ol micioLia has also bccn icpoiLcd Lo iangc
bcLwccn 57.1%
6
and 6%
1S
. In oui sLudy,
Lhc iighL cai was allccLcd in 56.6% ol cascs.
Thc picvalcncc ol bilaLcial discasc vaiics
liom .1%
22
Lo 25%
1S
in oLhci icpoiLs. Auial
aLicsia oi sLcnosis was picscnL in S.6% ol
oui paLicnLs, which was highci Lhan any oLhci
iaLios icpoiLcd. Sincc wc invcsLigaLcd a singlc
clinic populaLion in Lhc E&ENT hospiLal,
samplc bias was incviLablc. Thcicloic, iL was
icasonablc loi Lhc iaLio ol auial aLicsia Lo
bc high in a gioup ol paLicnLs who camc loi
hcaiing icconsLiucLion. Only 14.4% ol Lhc
cascs picscnLcd picauiiculai Lags/sinuscs,
which was similai Lo Lhc pciccnLagc icpoiLcd
by Oka|ima cL al.
22
, buL much lowci Lhan
LhaL by SuuLaila cL al.
1
(33.5%), which could
bc cxplaincd in Lcims ol iacial vaiiabiliLy.
IL was noL possiblc Lo conducL a ccivical
iadiological cxaminaLion and cchocaidiogiaphy
in cvciy paLicnL, Lhus only Lwo cascs wcic
diagnoscd as ccivical scoliosis and onc casc as
congcniLal vcnLiiculai scpLal dclccLs. VciLcbial
and caidiac anomalics wcic lound in ovci 10%
ol cascs in oLhci populaLions
3,6
. Thcicloic, wc
Fig. 3. CT scan icsulL ol casc No. 66 (malc, 11 ycais old).
Right side: micioLia giadc I wiLh cxLcinal mcaLus
sLcnosis. LclL sidc: noimal. CT scan showcd iighL-sidcd
middlc cai cholcsLcaLoma and dcloimcd ossiclcs.
Vc|ume 52 Numoer 6 Micrctia/OAVS in C|inese C|inic Pcpu|aticn 5S5
mosL likcly would havc lound moic vciLcbial
and caidiac dcloimiLics in oui paLicnLs il
piopci cxaminaLions could havc bccn donc.
RcpioducLivc Lcchnology and Lwin picgnancics
wcic icpoiLcd Lo bc associaLcd wiLh OAVS
12, 13
.
Nonc ol oui paLicnLs was conccivcd by ICSI,
whilc Lwo malc spoiadic paLicnLs had dizygoLic
Lwin sisLcis, boLh noimal and hcalLhy.
Tcmpoial CT scan is usclul in dcLccLing middlc
cai malloimaLions. Engiz cL al.
11
cvaluaLcd
11 paLicnLs wiLh a phcnoLypic appcaiancc
chaiacLciisLic loi Goldcnhai syndiomc, and
iadiological lindings includcd mandibulai
hypoplasia, middlc caviLy anomaly, hypoplasia ol
inLcinal audiLoiy canals, loss ol pncumaLizaLion
ol masLoid ccll, dcloimcd ossiclcs, aLicsia
ol Lhc cxLcinal audiLoiy canal, and abscnL
Lcmpoiomandibulai |oinL. In oui sLudy,
Lcmpoial CT scan lound similai abnoimaliLics:
aLicsia ol cxLcinal audiLoiy canal, middlc
caviLy anomaly, dcloimcd ossiclcs, and loss ol
pncumaLizaLion ol masLoid cclls. InLiiguingly,
15 cascs (7.2%) had middlc cai cholcsLcaLoma,
which ncccssiLaLcd an immcdiaLc suigical
icmoval. Thcicloic, wc suggcsL LhaL cvciy
paLicnL wiLh micioLia undcigo a Lcmpoial CT
scan cxaminaLion aL an caily agc Lo cxcludc
middlc cai cholcsLcaLoma, which oLhciwisc
would lcad Lo iisky complicaLions. No daLa
on such licqucncy ol Lhc clinical manilcsLaLion
havc bccn icpoiLcd picviously.
Much ol Lhc liLciaLuic has aigucd LhaL Lhcic
was a closc coiiclaLion bcLwccn Lhc dcgicc ol
micioLia and scvciiLy ol middlc cai dysplasia
24

and LhaL middlc cai dysplasia and ossiclc
dcloimaLions could lcad Lo conducLivc hcaiing
loss. In Lhis sLudy, wc hypoLhcsizcd LhaL Lhc
pooici Lhc condiLion ol Lhc cxLcinal cai, Lhc
gicaLci Lhc hcaiing loss. Oka|ima cL al.
22
concludcd LhaL Lhc conducLivc hcaiing loss
did noL dcLciioiaLc as Lhc giadc ol micioLia
incicascd. In Lhis sLudy, wc uscd onc way
ANOVA Lo compaic Lhc mcan dccibcls ol puic
Lonc audiomcLiy ol dillcicnL micioLia giadcs.
Oui icsulLs via a sLaLisLical analysis showcd Lhc
opposiLc, wiLh signilicanL dillcicnccs bcLwccn
giadc I and giadc III (p<0.05), which paiLially
vciilicd oui hypoLhcsis, alLhough Lhcic wcic
no sLaLisLical dillcicnccs bcLwccn giadc I and
II oi bcLwccn giadc II and III, which could
bc cxplaincd in Lcims ol Lhc limiLaLion ol Lhc
samplc sizc.
IuiLhcimoic, 12 ol 6S conLialaLcial, noimal-
appcaiing cais had mild Lo modciaLc conducLivc
oi mixcd hcaiing loss (21-70 dB). Eavcy
20
icpoiLcd addiLional conducLivc hcaiing loss
causcd by oLiLis mcdia wiLh cllusion, which
dcvclopcd in Lhc noimal cais. OLiLis mcdia
could bc a lacLoi, buL was unlikcly Lo cxplain
all Lhc cascs ol hcaiing loss. Oui Lcmpoial CT
scan icsulLs showcd middlc cai dcloimiLics
in somc conLialaLcial cais (Iig. 4), and Lhus
wc sLiongly suggcsL LhaL hcaiing luncLion
LcsLs bc pciloimcd in cvciy paLicnL wiLh
unilaLcial oi bilaLcial micioLia. IL is likcly
LhaL Lhc paicnLs ol unilaLcially allccLcd kids
would misLakcnly acccpL Lhc hcaiing ol Lhc
unallccLcd" cai as noimal. Thc dclay in Lhc
clinical diagnosis could imposc a gicaL impacL
on Lhcii spccch dcvclopmcnL, oi cvcn icsulL
in mcnLal icLaidaLion.
In conclusion, as conccins childicn wiLh micioLia,
cspccially non-isolaLcd micioLia, paicnLs should
bc piovidcd wiLh cnough guidancc and piopci
advicc in handling cxpccLcd and uncxpccLcd
hcaiing loss, middlc cai cholcsLcaLoma and
oLhci associaLcd mcdical condiLions, so as Lo
cnsuic LhaL Lcmpoial CT scan cxaminaLions
plus hcaiing luncLion LcsLs bc pciloimcd in
cvciy paLicnL as caily as possiblc.
REFEREMCE5
1. SuuLaila S, RauLio }, RiLvancn, cL al. MicioLia in Iinland:
compaiison ol chaiacLciisLics in dillcicnL populaLions.
InL } PcdiaLi OLoihinolaiyngol 2007, 71: 1211-1217.
Fig. 4. CT scan icsulLs ol casc No. 20S (lcmalc, 16
ycais old).
Right side: micioLia giadc II and onc picauiiculai Lag
wiLh cxLcinal mcaLus sLcnosis. LclL sidc: noimal ouLci
cai and cxLcinal mcaLus, buL CT scan showcd dcloimcd
ossiclcs.
5S6 }in L, et a| T|e Turkis| }curna| cj Pediatrics Ncvemoer-Decemoer 2010
2. IoiicsLci MB, Mciz RD. DcsciipLivc cpidcmiology ol
anoLia and micioLia, Hawaii, 1S62002. CongcniL
Anom (KyoLo) 2005, 45: 11-124.
3. Shaw GM, Caimichacl SL, Kaidaiova Z, cL al.
Epidcmiologic chaiacLciisLics ol anoLia and micioLia
in Caliloinia, 1S17. BiiLh DclccLs Rcs A Clin
Mol TciaLol 2004, 70: 472-475.
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Vc|ume 52 Numoer 6 Micrctia/OAVS in C|inese C|inic Pcpu|aticn 5S7
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