PRESENTER:DR HAPUNDA
SUPERVISOR: DR NYAGAH
17/12/13
OBJECTIVES
1.INTRODUCTION
2.CLASSIFICATON
3.EPIDEMIOLOGY
4.ETIOLOGY
5.DIAGNOSIS
6.MANAGEMENT AND REHABILITATION
7.FUTURE AND CONTROVERSIES
INTRODUCTION
DEFINITION
 A congenital malformation is a congenital physical
anomaly that is deleterious, i.e. a structural defect
perceived as a problem.
 Anomalies of external and middle ears usually occur
together
 External and middle ear anomalies are of major
importance to both the patient and the otolgist
1
1 . Pediatric otolaryngology volume 1 , Bluestone , stool,kenna
CLASSIFICATION
 SYNDROMIC EAR
 NON SYNDROMIC EAR
MALFORMATION
 A typical combination of
malformations affecting
more than one body part
MALFORMATION
Ossicular
Non-ossicular
-Vascular
-Non vascular
EPIDEMIOLOGY
 In the ENT region 50% of the malformations affect the3
ear
 The incidence of ear malformations is approximately 1
in 3800 newborns
 Malformations of the outer and middle ear are
predominantly unilateral ( 70-90%) and mostly
involve the right ear
 11-30 % of Inner ear malformation ass with outer and
middle ear malformations.
4
3. Weerda H. Chirurgie der Ohrmuschel. Verletzungen, Defekte und Anomalien. Stuttgart: Thieme; 2004. pp. 105–226.
4. Swartz JD, Faerber EN. Congenital malformations of the external and middle ear: high-resolution CT findings of surgical import. AJR.
1985;144:501–506.
ETIOLOGY
5
 Genetic
 Acquired : infections (viral , bacterial )
chemical agents,
irradiation
 Unknown origin.
5. Pediatric syndromic hearing loss , Grand rounds Presentation , UTMB,Dept of otolaryngology Sept 24 2009 Ryan
Ridley ,MD
OSSICULAR ANOMALIES
Embryogenesis
 Failure of mesenchymal absorption
 Failure of embryogenesis
 Failure of differentiation
OSSICULAR ANOMALIES
 Fixation of stapes /
hypoplasia of oval
window
 Bony fixation of lateral
wall and head of malleus
 Absent long crus of
incus
6.Current Diagnostic and Treatment Otolaryngology Head and Neck second edition Anil K Lalwani
6
DIAGNOSIS
 Clinical manifestation
 Audiometry
 Tympanometry
 Imaging
 Exploratory Surgery
Clinical
 Similar to OME
 CHL
 Otoscopic exam : unremarkable except
malleus –incus fusion,
hypoplasia of malleus,
M/E aplasia.
 General exam to r/o syndrome
AUDIOGRAM OSSICULAR
ANOMALIES
7
7. Pediatric Ear Diseases: Diagnostic Imaging Atlas and Case Reports By Yasushi Naito
MANAGEMENT
Medical tx
Surgical tx
 AUDITORY
 By dedicated otologist
REHABILITAION
 Timing of surgery?
Hearing Aid
Bone anchored hearing aid
 Preop Imaging imperative
 Adequate preop anesthetic
assessment
 CLASSIFICATION OF CONGENITAL OSSICULAR
ANOMALIES OF MIDDLE EAR
8. Teunissen and Cremer
8
SURIGCAL MANAGEMENT FOR
OSSICULAR ANOMALIES
 ISOLATED STAPES FOOTPLATE FIXATION
- Stapedectomy / Stapedotomy
 STAPES ANKYLOSIS ASS WITH OTHER
DEFORMITY
- Stapedectomy/Stapedotomy
- Malleovestibulopexy
9. Scott_Brown’s otolaryngology Head and Neck volume 1 seventh edition
9
 ISOLATED NON STAPES M/E ANOMLIES
Tympanoplasty
Attic fixation: atticotomy
Bony bar : laser , mircodrill or currette
Absence of long process of incus : prosthesis
 CONGENITAL APLASIA OR SEVERE DYSPLASIA OF
THE OVAL AND ROUND WINDOW
- Auditory rehabilitation with hearing aid or BAHA
NON OSSICULAR MIDDLE EAR
CONGENITAL MALFORMATIONS
6
PERSISTENT SATAPEDIAL ARTERY
 Incidence : 1 in 5000-10000
 asymptomatic
 Pulsatile tinnitus
 CHL
Retraction or avoidance may be the most prudent
management.
Persistent stapedial artery
13
13. Schuknecht's Pathology of the Ear edited by Saumil N. Merchant, Joseph B. Nadol
HIGH JUGULAR BULB
HIGH JUGULAR BULB
 The bulb is subject to congenital dehiscence and an
aberrant position within the middle ear
 A high riding jugular bulb is distinguished from an
asymmetrically large jugular bulb by its dome (roof)
reaching above the internal acoustic meatus (IAM.
 If the sigmoid plate is deficient, the bulb is free to
protrude into the middle ear cavity, and is then known
as a dehiscent jugular bulb
HIGH JUGULAR BULB
HJB
 Asymptomatic
 Tinnitus
 CHL
 D/D : aberrant ICA, PSA
glomus tympanicum tumor
 Mgt: Ligation
bone or cartlage graft
ABBERANT INTERNAL CAROTID
ARTERY
13
ABBERANT INTERNAL CAROTID




Pulsatil tinnitus
CHL
Otalgia
Bruit
 Mgt: Covering an aberrant vessel with
fascia, a bone graft, or a Silastic (ie, polymeric silicone)
sheet .
ANOMOLOUS COURSE OF FACIAL
NERVE
 TYMPANIC SEGMENT
 8-11 mm
 Runs in facial canal, which is a Z shaped canal running
throulgh the temporal bone from the IAM to the
stylomastiod foramen
 Facial canal may have an anomalous course or may
show dehiscent.
 Facial nerve arises form otic capsule and 2nd brachial
arch,cause of anomolous course is failure of fusion of
the two.
ANOMOLOUS COURSE OF FACIAL
NERVE
14
 Facial nerve partially
obliterates the stapes
foot plate
 Bifurcation of the facial
nerve
 Facial nerve rests on
footplate with deformed
stapes or oval window
 Facial nerve rests on
promontory
14 Rohrt T ,Lorentzen P. Facial nerve displacement within the middle ear (report of 3 cases).Journal of Laryngology and
otology 1976 ;90:1093-8
CONGENITAL PERYLYMPHATIC
FISTULA
Diagnosis
 -Controversial
 Fistula test, valsalva test ,
audiometry, ECOG,ENG,
HRCT, MRI scan
 -Weber et al define intraop
diagnosis as being based on
the identification of clear
fluid which reacumulates
with anesthetic valsalva or 15
trendlenburg manoeuvre.
 -Beta transferrin positive
samples
15 Weber PC ,Bluestone CD , Perez B . Outcome of hearing and vertigo after surgery for congenital
perilymphatic fistula in children . American Journal of Otolaryngoloy .2003;
CONGENITAL PERYLYMPHATIC
FISTULA
 Treatment
 As a result of difficulty in diagnosis , weber et al
suggest packing temporalis muscle around oval and
round windows in all suspected cases, based on the
finding that packing does not cause complications
such as CHL.
15
CONGENITAL CHOLESTEATOMA
 Criteria of Derlaki and
Clemis
 -White mass medial to
an intact T/M
 -Normal pars tensa and
flaccida
 -No previous hx of ear
discharge, perforation or
previous otological
procedure
CONGENITAL CHOLESTEATOMA
 Pathogenesis
ASQ : failure of normal involution of epidermoid tissue
PQ: posterior migration of ant epidermoid tissue
Amniotic cellular material in M/E
Ingrowth of epithelium from EAC thru defect TR
CONGENITAL CHOLESTEATOMA
Anterosuperior Quadrant
Posterosuperior Quadrant
 27-67%
 33-78%
 Near long process malleus
 Near ISJ
 Minimal ossicular involv.
 Freq ossicular involv.
 2-4 years
 12 years
CONGENITAL CHOLESTEATOMA
 CLASSIFICATION
 Type 1 – Confined to the middle
16
ear and do not involve the
ossicles
 Type 2 – Involve the posterior
superior quadrants and attic, the
site of the ossicular chain
 Type 3 – Involve the sites of type
1 and 2 as well as the mastoid
17
 STAGES
 Stage I – Limited to one
quadrant
 Stage II – Involving multiple
quadrants without ossciular
involvement
 Stage III – Ossicular
involvement without mastoid
extension
 Stage IV – Mastoid involvement
(67% risk of residual
cholesteatoma)
16.Nelson et. al Congenital Cholesteatoma: Classification, Management and Outcome. Arch Oto Head
Neck Surg July 2002; 128: 810:814
17.Levenson MJ et al. Congenital cholesteatomas in children: an embryologic correlation. Laryngoscope.
1988; 98:949-955
CONGENITAL CHOLESTEATOMA
17
 management
 Type 1 – Controlled by extended tympanotomy. No
second-look re-operation.
 Type 2 – Extended tympanotomy. Possibly atticotomy and
canal wall up tympano-mastoidectomy with or without
opening of the facial recess. Require second look. Possible
ossicular reconstruction.
 Type 3 – Similar to type 2, but occasionally need a canal
wall down tympanomastoidectomy
OTHER M/E ANOMALIES
TYMPANIC MEMBRANE ANOMALIES
 T/M replaced by fibrous tissue
 Small T/M
 Distorted T/M
EUSTACHIAN TUBE ANOMALIES
 Absence
 Abnormally narrow
 Congenital tumor(polyp)
 Collapsed lumen of ET
MASTOID ANOMALIES
 Absence of mastoid
antrum
 Poorly developed
mastoid antrum
 Small mastoid process
SYNDROMIC MIDDLE EAR
CONGENITAL MALFORMATION
 Hearing loss is one of the most common congenital
anomalies, occurring in approximately 2-4 infants per
1000
 Approximately one-third of children with genetic
hearing loss will display phenotypic characteristics of a
syndrome while two-thirds will be nonsyndromic
 Whether the hearing loss is syndromic or
nonsyndromic, it is of the utmost importance to
identify these patients early
DOWNS SYNDROME
The hearing loss in DS is usually
conductive secondary to the chronic
middle ear disease but can also be
due to ossicular chain abnormalities,
especially the stapes
Middle ear : thickening of malleus as a result
of bone hyperplasia , fusion of the malleolar
head to the body of the incus, spongy
apperance of the long process of the incus,
and abnormalities of the stapes.
OSTEOGENSIS IMPERFECTA
Causative mutations involve the COL1A1
or COL1A2 gene which regulate
formation of type I collagen. T
he conductive component of the hearing
loss is attributed to the thickened and
fixed stapes footplate, similar to what is
seen in otosclerosis.
TREACHER COLLIN
Hearing loss in this syndrome is usually
conductive with a wide array of middle ear
anomalies present such as monopodal
stapes, ankylosed foot plate,
 1. History Taking
 Examination
 Investigations
Behavioural hearing assessment, Electrophysiological
hearing tests, Tympanometry
 Management
Medical, Surgical, Rehabilitation (hearing aids) and
Follow-up
REFERENCES
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1. Pediatric otolaryngology volume 1 , Bluestone , stool,kenna
2.Surgery of the Ear Glasscock-Shambaugh
3. Weerda H. Chirurgie der Ohrmuschel. Verletzungen, Defekte und Anomalien. Stuttgart:
Thieme; 2004. pp. 105–226
4. Swartz JD, Faerber EN. Congenital malformations of the external and middle ear: high-resolution CT findings of surgical
import. AJR. 1985;144:501–506.Current Diagnostic and Treatment Otolaryngology Head and Neck second edition Anil K
Lalwani
5.Pediatric syndromic hearing loss , Grand rounds Presentation , UTMB,Dept of otolaryngology Sept 24 2009 Ryan Ridley ,MD
6.Current Diagnostic and Treatment Otolaryngology Head and Neck second edition Anil K Lalwani
7. Pediatric Ear Diseases: Diagnostic Imaging Atlas and Case Reports By Yasushi Naito
8. Teunissen and Cremer
9. Scott_Brown’s otolaryngology Head and Neck volume 1 seventh edition
10 surgical atlas of Pediatric Otolaryngology Bluestone and Rosenfeld
11.Van der Hoeve J, de Kleyn A. Blaue skleren, knochenbruchigkeit und schwerhohrigkeit. Arch Ophthalmol 1918; 95:81-93.
[German
12. Clinical audiology Brad A Stach
13. Schuknecht's Pathology of the Ear edited by Saumil N. Merchant, Joseph B. Nadol
14 Rohrt T ,Lorentzen P. Facial nerve displacement within the middle ear (report of 3 cases).Journal of Laryngology and otology
1976 ;90:1093-8
15 Weber PC ,Bluestone CD , Perez B . Outcome of hearing and vertigo after surgery for congenital perilymphatic fistula in
children . American Journal of Otolaryngoloy .2003;
16.Nelson et. al Congenital Cholesteatoma: Classification, Management and Outcome. Arch Oto Head Neck Surg July 2002; 128:
810:814
17.Levenson MJ et al. Congenital cholesteatomas in children: an embryologic correlation. Laryngoscope. 1988; 98:949-955
FUTURE AND CONTROVERSEY
 Developments in middle ear implantation may render
corrective surgery almost redundant
 The incidence , aetiology and pathogensis of
congenital ossicular abnormalities is poorly
understood.