EMBRYOLOGY, MALFORMATION OF EAR, SYNDROMES

1. DR.MANISH VERMA
MS ENT, PGIMS, ROHTAK

6. •Week 6: Hillocks begin to form around
1st and 2nd branchial arch and a process
of fusion produce a primitive ear in 50
days old embryo.
•Starts low and anteriorly then migrates
dorsally and cephalad during months
2-3.
•In final position at month 5.

14.  The external canal starts to hollow out
(recanalize) during the 6th month and progresses
from medial to lateral.
 Arrest of recanalization process leads to the
various deformities seen in atresia.

16. CONGENITAL ANOMALIES
OF EXTERNAL EAR

17. Malformation of External Ear may be
related to a
 Size of auricle
Microtia
Macrotia
Anotia
 Shape of auricle
Cup shaped
Lop ear
Dysplastic
Elfin ear(Pointed ear)
Lob malformation

18.  Position of the ear
Melotia (ear located on cheek due to
lack of aural ascent)
Synotia (low set ear very close to each
other in midline)
 Aurical fistula/sinus
 Aurical appendages
 External acoustic meatus
Atresia
Duplication
Septation

19. Microtia
 An under development of external ear
resulting in deformed auricle
–Ranges from mild deformity to complete
agenesis of ear.
–1:10000-20000 births
–Most often unilateral
–Right side predominance (twice left)
–2.5:1 Male to female ratio
–Associated with congenital aural atresia

20. Etiology
 In most cases, causes is unknown.
 Congenital microtia can occur sporadically as an
isolated congenital anomaly, associated with other
anomalies or as a part of recognized syndrome.
 In 15% cases, genetic & enviremental causes like foetal
alcohal syndrome, maternal diabetic embryopathy,
thalidomide and isotretinoin exposure.

21. Microtia classification
system
•Type I: Mild deformity, major
structures present to some degree,
no tissue needed
•Type II: major structures present, but
tissue deficit to degree additional
tissue needed
•Type III: Few recognizable landmarks,
lobule usually present to some
degree
•Type IV: anotia

22. Microtia

23. Microtia

24. Reconstructive option
No surgery
Prosthetic
Surgery
–Autogenous material
–Synthetic implant

25. Prosthetic ear
 Osseo-integrated anchoring device
 Indication:
–Failed autogenous reconstruction
–Severe soft-tissue/skeletal hypoplasia
–Low or unfavorable hairline
–Acquired total or subtotal auricular defect,
usually in adults –cartilage may be unfavorable
 prosthesis changes every 2 to 3 years
–$2000-4000
 Meticulous hygiene at skin/implant interface
 Preclude future autogenous reconstruction

26. Prosthetic ear

27. Surgery
 Timing of repair
 Minimum of 6 years old
–Ear is 85-90% of adult size at this age
–Need time for sufficient rib cartilage to grow
•Ribs Not85% adult size at this age
•Rib cartilage retains growth potential of source
–Psychologic issues start around this age
 Any surgical correction of the external ear
needs to consider the effect of surgery on
possible EAC or middle ear reconstruction

28. Various surgical rconstruction
technique
Brent Reconstruction technique
Nagata Reconstruction
technique
Medpor reconstruction
technique

29. Brent Reconstruction Technique
 Modification of Tanzer technique
 Four stage technique
–1: Rib harvest of construction of framework
–2: Lobule interposition
–3: Elevation of ear
–4: Tragus construction
 Minimum of two months between first and
second and then three months between
subsequent stages

30. Nagata Reconstruction
 Multiple variations of Brent technique,
Nagata being most popular
 Two-stage technique
–Stage I: fabrication of auricular framework
from ipsilateral costal cartilage, tragus
reconstruction, and lobule transposition
–Stage II: framework elevation

31. Medpor reconstruction
 No rib harvest
 Earlier age of repair
 Excellent contour and shape
 Shorter learning curve?
 Does not grow with patient
 Implant extrusion
 Need for TP flap

32. Complications
Pneumothorax from rib
harvest
Infection
Hematoma
Skin loss
Implant extrusion (Medpor)

33. Macrotia
 Auricle is very large but well shaped
 Most exaggerated part is scaphoid fossa
 Causing psychological disturbances
 Associated with
Marfan syndrome
Cerebro-oculo-facial-skeletal syndrome
Fragile X-syndrome
Variant of De Lange type 2 syndrome
Anophthalmia Plus sundrome

34. Anotia
 Complete absence of auricle
 Extremely rare condition
 Sporadic
 Usually unilateral

39. Dysplastic ear
 Abnormally shaped auricle associated with
chromosomal anomalies. e.g.
1. Diastrophic dysplasia – cauliflower deformity
due to cystic degeneration of pinna.
2. Antley-Bixler syndrome – Dysplastic ear, hypo-
-plasia, brachycephaly, radiohumeral synos-
-tosis and joint contracture.
3. Trisomy 13-15 – underdevelopment of tragus &
lobule.
4. Anencephaly – large fleshy & some-time folded
pinna

40. Dysplastic ear

41. Lop ear
 External ear stands away
from head at agreater
angle
 Autosomal Dominant
Inheritance
 Resemble fetal stage of
pinna development
 Associated with Ehler –
Danlos syndrome

42. Lobe formation
 Adherent lobe – male ›
female
 Cleft lobe (coloboma)
 Abscent lobe- Seckel
syndrome
 Hypertropic thickened
lobe
 Lobe malformation may be
part of part of
Wolf-Hirschhorn
syndrome
Beckwith-Wiedmann
syndrome

45. Darwinian tubercle
 A small projection
from the decending
part of helix.
 Darwin regarded this
variation as a remnant
of the pointed ears of
some arthropods.

46. Melotia
Ear located on cheek
Due to lack of aural ascent
Due to underdevelopment of the
auricle

47. Low set ear
 Below an arbitary line
drawn between the
lateral canthus of eye &
occipital protruberance
 Multifactorial etiology
 Associated anomalies
are Noonan syndrome,
Pena –shokeir
Phenotype, Trisomy -18

48. Synotia
 Agnanthia-Synotia-
Microstomia
 Ears are very close to
each other due to
absence or hypoplasia
of mandible . The
external ears assume a
horizantal position
with the lobule located
near the midline.

49. Auricular appendages
 Tag of skin with or without a cartilaginous base
 Frequently located in the line of junction of the
mandibular and hyoid arches.
 May be sessile or pedunculated.
 Location
in front of auricle
with in the ear
behind the ear
on the lobule
 May associated with Macrotia, Melotia or oblique facial
features

51. Accessory Auricle

53. PAS
 Blind ending narrow tubes or pits.
 Location- Antrerior margin of ascending limb of helix,
center of lobule, calloaural.
 Most are harmless but get infected, form retention
cysts & causes chronic discharge from sinuses.
 Autosomal Dominant Inheritance with variable
expressivity and incomplete penetrance.
 Treatment- Excision under local/ General anaesthesia.

54. Congenital anomalies of External
Acoustic Meatus
 Atresia – It may be of osseous or membranous portion.
Seen in severe cases of Mandibulo-facial
dysostosis.
 Duplication- Blind ended accessary canal above or
below the cnal leads to the drum.
 Septa- Dividing the external auditary meatus .
 Change in curvature of canal.

55. Atresia
Embryology – 7th Month
 Canalization complete
 Mastoid separation from mandible
Normal posterior-
inferior growth
No mastoid
growth
Normal Atresia

56. Epidemiology
 1 in 10,000 to 15,000 births.
 Up to 50% of the time associated with some
craniofacial syndrome.
 Unilateral : Bilateral, about 3:1
 30% are bilateral
 Atresia : Microtia, 7:1
 Slightly more common on the right
 Male : Female, 2:1

60. Syndromic association
Microtia with aural atresia associated with various syndromic conditions such
as
 Treacher Collins (Mandibulofacial Dysostosis)
 Nager Syndrome (Acrofacial Dysostosis)
 Cruzoun’s Craniofacial Dysostosis
 Goldenhar’s Syndrome
 Sticklers
 Foetal alchohal syndrome
 CHARGE
 Hemifacial Microsomia
 Noonan syndrome

63. Goldenhar
 Oculo-auricular-vertebral
syndrome.
 Characterized by incomplete
development of the ear, nose,soft
palate, lip, and mandible.
 It is associated with anomalous
development of the first branchial
arch and second branchial arch.
 Common clinical manifestations
include limbal dermoids,
preauricular skin tags, and
strabismus.

64. Hemifacial microsomia
 congenital disorder
that affects the
development of the
lower half of
theface, most
commonly the ears,
the mouth and the
mandible

65. Stickler syndrome
 Autosomal dominant condition.
 Presenting with cleft palate, micrognathia, severe
myopia and retinal detachment associated with
conductive hearing loss.
 Some cases have a progressive high sensorineural
hearing loss.

66. Thanks