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Congenital anomalies of the ear

Author: Glenn C Isaacson, MD, FAAP
Section Editors: Anna H Messner, MD, Helen V Firth, DM, FRCP, DCH
Deputy Editor: Carrie Armsby, MD, MPH
All topics are updated as new evidence becomes available and our peer review process is complete.
Literature review current through: Sep 2019. | This topic last updated: Apr 02, 2018.
INTRODUCTION
Congenital anomalies result from errors in embryogenesis (malformations) or intrauterine events that affect
embryonic and fetal growth (deformations and disruptions) [1]. The more complex the formation of a structure,
the more opportunities for malformation.
The embryology, clinical features, and management of congenital anomalies of the ear are reviewed here.
Many of these abnormalities are associated with hearing loss. The evaluation and management of hearing
loss in children in discussed separately:
● (See "Screening the newborn for hearing loss".)

● (See "Hearing loss in children: Etiology".)
● (See "Hearing loss in children: Screening and evaluation".)
● (See "Hearing loss in children: Treatment".)
EMBRYOLOGY
Outer ear — The auricle or pinna is formed from the fusion of six raised soft tissue swellings (hillocks) on the
surface of the embryo. Three of these hillocks are derived from the first branchial arch (Meckel) and three
from the second branchial arch (Reichert) during the fifth and sixth weeks of intrauterine life. Growth of the
fused tissues, guided by the pull of the intrinsic muscles of the ear, creates the folds of the helix, antihelix, and
tragus (figure 1).
The ear canal is formed from an invagination of surface epithelium in the fifth week of intrauterine life. This
was thought to represent a vestige of the first branchial cleft; however, fate mapping studies and evidence
from transgenic mice with the duplicated auricular structures suggest instead that it results from a distinct
invagination within the first branchial arch [2].
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The solid core of cells meets a similar evagination from the pharynx, trapping a layer of mesothelium in
between (figure 2). Fusion of these cells at the juncture results in the formation of the three layers of the
tympanic membrane (figure 3). Recanalization of the external ear canal occurs in the second trimester and is
complete at approximately 28 weeks gestation; vernix-like material is left behind [3].
Middle ear — The ossicles are formed by condensation of mesenchyme derived from the first and second
branchial arches. Cartilage develops and gradually is replaced by bone in the second and third trimesters
(picture 1). The ossicles are near adult size and adult ossification at the time of birth. Cartilage remains only at
the articulations.
The cavity of the middle ear forms when endoderm evaginating from the first pharyngeal pouch invades the
mesoderm of the middle ear. This pouch narrows to form the lining of the eustachian tube near the
nasopharynx and spawns fingerlike projections that surround the developing ossicles. The lateral-most
projection of endoderm creates the inner layer of the tympanic membrane. Tympanic membrane retractions
that cause cholesteatomas later in life follow the paths of these mucosal invaginations [4]. (See
"Cholesteatoma in children".)
At birth, the middle ear is narrow and contains residual mesenchyme and amniotic fluid. Within minutes of
birth and spontaneous breathing, air enters the eustachian tube, displacing amniotic fluid to create a
pneumatized cavity. Some mesenchyme persists beneath the mucosal of the middle ear for up to five years
after birth [5].
Inner ear — Inner ear morphogenesis requires a highly coordinated and complex pattern of growth. The
cochlea and vestibular system are derived from epithelium that migrates deep from within the embryonic
surface early in development. This epithelium forms a fluid-filled cyst called the otic vesicle. The otic vesicle
folds, spirals, and elongates to form the membranous labyrinth (picture 2). Neural cells arising in the eighth
cranial nerve invade the labyrinth. By the end of the second trimester, the inner ear is developed sufficiently to
transduce vibratory energy into neural impulses that are transmitted to the brain [6].
GENETICS
The genes involved with ear development remain poorly understood. A number of genes have been found to
be important for the development of the outer and middle ears, including HMX1, TCOF1 and EYA1. They
often affect more than one part of the ear, and defects in these genes can result in complete loss of the outer
and middle ear structures. Mutations in some of these genes (eg, TCOF1) are associated with human
craniofacial syndromes (eg, Treacher Collins syndrome) (table 1) [7]. (See "Syndromes with craniofacial
abnormalities".)
Several genes have been identified that control otic capsule formation, growth, and neural connection.
HDAC1 has emerged as an important regulator of cell proliferation and cell survival. In animal models, the
absence of HDAC1 can lead to failed inner ear development [8]. SOX2 has been shown to be critical for
sensory development in the inner ear [9].
OUTER EAR MALFORMATIONS
Microtia — Incomplete development and growth of the pinna can lead to a small or deformed pinna (microtia)
or absent pinna (anotia).
● Definition and epidemiology – In unilateral cases, microtia is defined as a size discrepancy between
ears that exceeds normal variation (ie, >10 percent difference) [10]. The right side is affected more
commonly than the left. Bilateral microtia is defined as a length of the external ear that is more than 2
standard deviations below the mean [11]. In severe cases, the pinna is completely absent (anotia).
Microtia and anotia occur in 1 to 3 per 10,000 births [12].
● Association with genetic syndromes – Microtia and anotia may occur in isolation or in association with
genetic syndromes and other malformations, including facial clefts, cardiac defects, limb anomalies, renal
anomalies, and holoprosencephaly [12,13]. Microtia is a common finding in children with Treacher-Collins
syndrome and craniofacial microsomia (also called Goldenhar syndrome, hemifacial microsomia, oculo-
auriculo-vertebral spectrum, and first and second branchial arch syndrome). (See "Syndromes with
craniofacial abnormalities", section on 'Treacher Collins syndrome' and "Syndromes with craniofacial
abnormalities", section on 'Craniofacial microsomia'.)
Numerous other microtia-associated syndromes have been reported (table 1); these may be associated
with single-gene defects or chromosomal abnormalities [14]. Genetic factors also appear to play an
important role in isolated, nonsyndromic cases [15]. In a series of 145 cases, more than two-thirds were
sporadic and approximately one-third were familial [13]. Among the familial cases, autosomal dominant
inheritance was most common, but cases with autosomal recessive and multifactorial inheritance were
also noted.
● Other risk factors – Microtia and anotia occur more frequently in boys, at increased altitude, with
increasing birth order, in infants of diabetic mothers, and infants with prenatal exposure to isotretinoin,
thalidomide, alcohol, or mycophenolate [12,16-19].
● Classification – Several different classification systems for microtia have been proposed [14]. In the
Marx system, type I microtia is characterized as a generally well-formed, perceptibly smaller auricle. In
type II microtia, the pinna is malformed and 50 to 66 percent smaller than the contralateral pinna. In grade
III microtia, the auricle is severely malformed and usually exhibits a peanut shape (picture 3) [20].
● Evaluation – Evaluation of infants with microtia and anotia includes audiologic testing and thorough
examination to identify associated defects. In some cases, imaging may be warranted to detect
associated abnormalities of the external auditory canal, middle, and inner ear [21].
Appropriate consultations in the neonatal period include a clinical geneticist, pediatric audiologist,
pediatric otolaryngologist, or a pediatric plastic surgeon. Although surgical intervention for unilateral
defects seldom is undertaken until the child reaches 6 to 10 years of age, these consultations are
important to identify other abnormalities and to provide reassurance for the families. Long-term
management may include audiology, particularly if there is associated external auditory canal atresia
(aural atresia). Amplification devices are beneficial for children with bilateral hearing loss [22]. (See
"Hearing loss in children: Treatment".)
● Surgical repair – A minor abnormality of the pinna may not require correction. When the pinna is grossly
deformed or absent, reconstruction often is warranted for cosmetic reasons. Most repairs are undertaken
when the child is 6 to 10 years of age, after the pinna has reached 80 percent of its adult size.
Microtia repair is complex and often requires several stages [23]. A cartilage framework, usually derived
from costal cartilage, is created and anchored beneath the skin of the mastoid area. Once it is well
attached to surface skin, a postauricular crease is created in a second operation. Additional procedures
often are employed for "fine-tuning." Even in the best hands, the complex structure of the external ear is
difficult to duplicate, and cosmetic results vary widely.
Some experts have advocated the use of synthetic auricular frameworks given the difficulty of creating an
aesthetically pleasing auricle from autologous cartilage. Research into customized three-dimensional
scaffolds is ongoing [24]. The placement of a prosthetic auricle anchored with an osteointegrated peg
remains an option [25].
Lop or outstanding ear — Protruding ears usually result from incomplete formation of the antihelical fold
(picture 4). This abnormality has no functional significance. However, children with protruding ears sometimes
are teased or bullied by their peers. If the protrusion is not severe, non-surgical splinting in the neonatal period
may correct the defect [26]. For more severe cases, otoplasty can be performed later in childhood, typically
when the child is four to six years old. The most common procedures involve the excision of skin from the
posterior surface of the auricle and the placement of permanent sutures to reposition the ear and create an
antihelical fold [27]. These techniques provide high rates of patient and family satisfaction [28]. Complications
occur in 0 to 8 percent of otoplasties and include hematomas, perichondritis, suture extrusion, and keloid
formation. Residual deformity and asymmetry of the two ears may occur [29].
Preauricular pits — Preauricular pits are small indentations located anterior to the helix and superior to the
tragus of the ear (bilateral in 25 to 50 percent of cases) (picture 5). They are quite common, noted in
approximately 1 percent of white, 5 percent of black, and 10 percent of Asian children [30]. The prevalence is
considerably higher in some family lineages [30]. Associated congenital anomalies occur in approximately
one-third of the sporadic cases [31].
Infants with preauricular pits should have formal audiologic evaluation [32]. The risk of permanent hearing loss
in children with preauricular pits or tags is five times that of the general population [32]. (See "Hearing loss in
children: Screening and evaluation", section on 'Formal audiology'.)
The incidence of renal anomalies in patients with isolated preauricular pits does not differ substantially from
that in the general population [33,34]. (See 'Association with renal anomalies' below.)
Preauricular pits may be the first indication of branchio-oto-renal (BOR) syndrome, one of the most common
causes of hereditary hearing loss (picture 6). BOR is an autosomal dominant syndrome; most cases are due
to mutations in the EYA1 and SIX1 genes [35]. It is characterized by sensorineural hearing loss (SNHL),
preauricular pits, branchial cysts or tracts, malformed ears, and renal anomalies, including renal dysplasia and
bifid renal pelvises [36]. (See "Renal hypodysplasia", section on 'Branchio-oto-renal syndrome'.)
Preauricular pits do not require surgery unless they become repeatedly infected or discharge squamous
material (picture 5) [30]. If surgery is performed, it should include excision of the pit, the squamous-lined cyst
usually present beneath the skin (picture 7), and the cartilage at the root of the helix en bloc to avoid
recurrence (picture 8) [37].
Accessory auricular appendage/preauricular tag — Accessory appendages composed of skin,

subcutaneous fat, and/or cartilage may occur near the auricle or anywhere along the anterior border of the
sternocleidomastoid muscle (picture 9). When they occur in the preauricular area, they are called preauricular
tags.
Accessory auricular appendages and preauricular tags usually are removed in childhood for cosmetic
purposes. Excision with plastic surgical closure provides better results than neonatal ligation with suture or
rubber bands because the lesions typically extend into subcutaneous tissue planes [38].
Children with accessory auricular appendages may have associated unilateral hearing loss and should
undergo newborn hearing screening [32]. (See "Screening the newborn for hearing loss".)
Accessory auricular appendages, particularly at the tragus, with or without associated microtia may appear as
part of the oculo-auriculo-vertebral spectrum (also called Goldenhar syndrome, hemifacial microsomia, facio-
auriculo-vertebral spectrum, and first and second branchial arch syndrome). Preauricular tags may be seen in
other genetic syndromes (eg, Townes-Brocks syndrome, branchio-oto-renal syndrome) [2,14]. (See
"Syndromes with craniofacial abnormalities", section on 'Craniofacial microsomia'.)
Ear anomalies in CHARGE and DiGeorge syndromes — The external ear may have a characteristic
appearance in these syndromes:
● CHARGE syndrome – In children with CHARGE syndrome (coloboma, heart defects, atresia choanae,
retardation of growth and/or development, genital and/or urinary abnormalities, ear abnormalities and
deafness), the ears are typically asymmetric between sides, have reduced vertical height, and have a
cup-shaped, wide helix (picture 10) [39].
● DiGeorge syndrome – Children with DiGeorge syndrome (also called 22q11.2 deletion syndrome or
velocardiofacial syndrome) typically have a thick/overfolded helix and slightly low set ears [40]. (See
"DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis".)
Aural atresia (external auditory canal atresia) — Failure of complete invagination of the external auditory
canal results in an absent or stenotic ear canal and improper formation of the eardrum. Failure of
recanalization results in membranous stenosis or atresia (picture 11).
Formation of the malleus and incus occurs at the same time as invagination of the external auditory canal.
Thus children with aural atresia commonly have associated abnormalities of these ossicles, particularly fusion
of the incus and malleus to each other or to atretic bone in the auditory canal.
Children who have unilateral external auditory canal atresia may not require surgery if the pinna is well formed
and the contralateral ear has normal hearing [41]. The use of a bone-conduction/bone-anchored hearing aid in
a child with unilateral aural atresia remains controversial. A bone-anchored aid may decrease head-shadow
effect (ie, difficulty hearing sounds coming from the direction of the affected side), but does not improve
localization of sound [42]. Amplification is important if the child has hearing loss in the contralateral ear.
Many children with external auditory canal atresia have normal middle ears and can develop acute otitis
media (AOM). Children with aural atresia should be treated with antibiotics if AOM is suspected clinically,
because the diagnosis cannot be confirmed through otoscopy [22,43]. (See "Acute otitis media in children:
Treatment", section on 'Initial antimicrobial therapy'.)
Children with unrepaired aural atresia/stenosis also have a risk of developing middle ear cholesteatoma.
Persistent ear pain or fever may be the only clues to this condition, which is diagnosed with computed
tomography (CT) (image 1). (See "Cholesteatoma in children".)
Bilateral aural atresia is associated with a maximal conductive hearing loss (approximately 60 dB) and
requires early intervention. Children with bilateral aural atresia should be fit with a bone-conduction hearing
aid within weeks of birth to assist with early language acquisition [44]. (See "Hearing loss in children:
Treatment", section on 'Bone conduction hearing devices'.)
Surgery to correct aural atresia usually is performed toward the end of the first decade of life, when substantial
mastoid development has occurred. Surgery entails the creation of a new ear canal and ear drum, providing a
skin lining for the canal and drum, and mobilizing or repositioning the ossicles to allow transmission of sound.
Surgery is more likely to be successful if extensive pneumatization of the mastoid air cells is present and the
stapes is mobile. One of the major risks of this surgery is injury to the facial nerve or the dura of the middle
cranial fossa. Thus, the procedure should be performed by an experienced otologist and with
electrophysiologic facial nerve monitoring. Other complications include chronic myringitis, prosthesis
displacement, SNHL, soft-tissue stenosis and tympanic membrane lateralization [45]. Revision surgery is
required in approximately 25 percent of cases [45]. The new ear canal often requires cleaning and care for life
[46]. The bone-anchored hearing aid is an alternative for patients who are not candidates for aural
atresiaplasty because of unfavorable anatomy or personal preference [47]. Devices that avoid a
transcutaneous peg may improve patient acceptance of bone-anchored aids [48].
MIDDLE EAR MALFORMATIONS
Congenital malformations of the ossicles may cause conductive hearing loss. Ossicular and other middle ear
malformations occur as part of syndromes (eg, Treacher-Collins, branchio-oto-renal, Stickler, velocardiofacial
(DiGeorge), Beckwith-Wiedemann) and occasionally as isolated events.
The most common abnormalities of the ossicles are fixation of the malleus and/or incus, incudostapedial
discontinuity, and stapes fixation. These defects in the middle ear's conducting mechanism cause hearing
losses ranging from minor to maximal (60dB) and have important effects on communication and learning.
Each of these abnormalities is surgically correctable; correction of stapes fixation is most likely to fail because
of the delicate attachment of the stapes to the inner ear [49].
INNER EAR MALFORMATIONS
The cochlea arises from a cystic invagination of surface epithelium (the otocyst) that pulls away from the
vestibular portion of the inner ear during the first trimester and forms an elongating spiral. Failure of
development along this pathway results in the Michel and Mondini anomalies, which can be detected with
high-resolution computed tomography (CT) or magnetic resonance imaging (MRI) [50-53].
The Michel malformation occurs when the labyrinth is absent or reduced to a single cystic cavity. The Mondini
malformation is present when cochlear growth is arrested at less than one complete turn (2.75 turns is normal)
(picture 12). It is associated with complete deafness and vestibular malformations [54,55].
Minor abnormalities in the labyrinthine structure also can result in partial or progressive hearing loss. Enlarged
vestibular aqueduct syndrome is the most common inner ear malformation. It may affect one or both ears
(image 2) [56,57]. The hearing loss in children with large vestibular aqueduct syndrome may be sensorineural
or mixed [58]. Some patients have normal hearing at birth, followed by progressive or fluctuating hearing loss.
Sudden hearing loss may occur spontaneously or after minor head trauma. The degree of hearing loss is
related to the extent of dilation of the vestibular aqueduct [59].
Children with genetic sensorineural hearing loss (SNHL) have a high incidence of minor malformations of the
semicircular canals, cochlea, and internal auditory canal [60]. Hypoplasia of the semicircular canals is
common in patients with CHARGE syndrome [61]. Pendred syndrome is one of the most common syndromic
causes of SNHL. It is characterized by severe-to-profound bilateral SNHL that is usually congenital (or
prelingual) and non-progressive, vestibular dysfunction, temporal bone abnormalities, and development of
euthyroid goiter in late childhood to early adulthood. (See "Hearing loss in children: Etiology", section on
'Hereditary'.)
Autosomal recessive deafness with enlarged vestibular aqueduct (DFNB4) is caused by mutations in
SLC26A4 and, less commonly, double heterozygous mutations of FOXI1/SLC26A4 and KCNJ10/SLC26A4.
DFNB4 is characterized by nonsyndromic sensorineural hearing impairment, vestibular dysfunction, and
enlarged vestibular aqueduct EVA. Thyroid defects are not seen in DFNB4 [62].
ASSOCIATION WITH RENAL ANOMALIES
We suggest that renal ultrasound be performed in children with ear anomaly accompanied by any of the
following:
● Other malformations or dysmorphic features
● Family history of deafness or auricular or renal malformations
● Maternal history of gestational diabetes
In addition, some experts suggest that renal ultrasound be performed in children with isolated preauricular pit
or cup ear [63]. However, this recommendation is controversial.
Children with external ear anomalies, particularly preauricular pits and cup ears, have a slightly increased risk
of renal anomalies [64-66]; however, the incidence of renal anomalies in patients with isolated preauricular
pits (ie, without other malformations or dysmorphic features) appears to be similar to that in the general
population [33,34]. External ear malformations and renal anomalies occur in several multiple congenital
anomaly (MCA) syndromes, including:
● Branchio-oto-renal [BOR] syndrome

● Coloboma of the eye, heart anomalies, choanal atresia, retardation, genital and ear anomalies [CHARGE]
syndrome
● Townes-Brocks syndrome
● Nager syndrome
● Miller syndrome
● Diabetic embryopathy (see "Infants of women with diabetes")
In a prospective study, 108 out of 17,286 infants born at a single medical center during a four-year period had
isolated preauricular tags or pits [33]. The infants were examined by a geneticist to confirm the absence of
other congenital anomalies and underwent renal ultrasonography at one to three months of age. Their
ultrasonography findings were compared with those of 95 healthy infants who underwent ultrasonography on
the second day of life. The prevalence of renal abnormalities was similar between groups (2.2 and 3.1 percent
in cases and controls, respectively). The abnormalities included mild pyelectasis (in two cases and three
controls) and renal calculus (in one control). The authors concluded that renal ultrasonography is not indicated
in infants with isolated preauricular pits or tags.
In a retrospective report of 42 children with ear anomalies (including preauricular pits or tags, microtia, anotia,
cup, lop, or other dysplastic ear) who were referred for genetics evaluation at one of two tertiary medical
centers, 33 (79 percent) were diagnosed with a MCA syndrome, and the remaining 9 had isolated ear
anomalies (most commonly preauricular pits) [63]. One-third of children with MCA syndromes had
abnormalities on renal ultrasound compared with only one of the nine children with isolated ear anomalies.
SUMMARY
● Congenital outer ear anomalies include microtia, lop (outstanding, protruding) ear (picture 4), preauricular
pits (picture 5), accessory auricular appendages/preauricular tags (picture 9), and aural/external auditory
canal atresia (picture 11). (See 'Outer ear malformations' above.)
● Congenital middle ear anomalies include malformations of the ossicles (eg, fixation or incudostapedial
discontinuity) and may result in conductive hearing loss. Ossicular malformations may occur as part of a
syndrome or in isolation. (See 'Middle ear malformations' above.)
● Congenital inner ear anomalies include the Michel and Mondini malformations, and the enlarged
vestibular aqueduct syndrome. (See 'Inner ear malformations' above.)
● External ear malformations and renal anomalies occur in several multiple congenital anomaly syndromes.
We suggest that renal ultrasonography be performed in children with ear anomaly and any of the
following:
• Other malformations or dysmorphic features
• Family history of deafness or auricular or renal malformations
• Maternal history of gestational diabetes (see 'Association with renal anomalies' above)
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Atresia and Hypoplasia. JAMA Otolaryngol Head Neck Surg 2016; 142:52.
46. Lambert PR. Congenital aural atresia: stability of surgical results. Laryngoscope 1998; 108:1801.
47. Yellon RF. Atresiaplasty versus BAHA for congenital aural atresia. Laryngoscope 2011; 121:2.
48. Hol MK, Nelissen RC, Agterberg MJ, et al. Comparison between a new implantable transcutaneous
bone conductor and percutaneous bone-conduction hearing implant. Otol Neurotol 2013; 34:1071.
49. Briggs RJ, Luxford WM. Correction of conductive hearing loss in children. Otolaryngol Clin North Am
1994; 27:607.
50. Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based
on embryogenesis. Laryngoscope 1987; 97:2.
51. Marsot-Dupuch K, Dominguez-Brito A, Ghasli K, Chouard CH. CT and MR findings of Michel anomaly:
inner ear aplasia. AJNR Am J Neuroradiol 1999; 20:281.
52. Ozgen B, Oguz KK, Atas A, Sennaroglu L. Complete labyrinthine aplasia: clinical and radiologic findings
with review of the literature. AJNR Am J Neuroradiol 2009; 30:774.
53. Miyashita H, Isono M, Murata K, et al. Three-dimensional magnetic resonance imaging findings of inner
ear anomaly. Acta Otolaryngol Suppl 2000; 542:67.
54. Phelps PD. Mondini and the dysplastic lateral semi-circular canal. ORL J Otorhinolaryngol Relat Spec
1994; 56:116.
55. Kaya S, Hızlı Ö, Kaya FK, et al. Peripheral vestibular pathology in Mondini dysplasia. Laryngoscope
2017; 127:206.
56. Levenson MJ, Parisier SC, Jacobs M, Edelstein DR. The large vestibular aqueduct syndrome in
children. A review of 12 cases and the description of a new clinical entity. Arch Otolaryngol Head Neck
Surg 1989; 115:54.
57. Arjmand EM, Webber A. Audiometric findings in children with a large vestibular aqueduct. Arch
Otolaryngol Head Neck Surg 2004; 130:1169.
58. Rodriguez K, Shah RK, Kenna M. Anomalies of the middle and inner ear. Otolaryngol Clin North Am
2007; 40:81.
59. Ascha MS, Manzoor N, Gupta A, et al. Vestibular Aqueduct Midpoint Width and Hearing Loss in Patients
With an Enlarged Vestibular Aqueduct. JAMA Otolaryngol Head Neck Surg 2017; 143:601.
60. Kenna MA, Rehm HL, Frangulov A, et al. Temporal bone abnormalities in children with GJB2 mutations.
Laryngoscope 2011; 121:630.
61. Wineland A, Menezes MD, Shimony JS, et al. Prevalence of Semicircular Canal Hypoplasia in Patients
With CHARGE Syndrome: 3C Syndrome. JAMA Otolaryngol Head Neck Surg 2017; 143:168.
62. Alasti F, Van Camp G, Smith RJH. Pendred Syndrome/DFNB4. 1998 Sep 28 [updated 2014 May 29]. In:
Pagon RA, Adam MP, Ardinger HH, et al (Eds), GeneReviews [Internet], University of Washington, Seattl
e1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1467/.
63. Wang RY, Earl DL, Ruder RO, Graham JM Jr. Syndromic ear anomalies and renal ultrasounds.
Pediatrics 2001; 108:E32.
64. Queisser-Luft A, Stolz G, Wiesel A, et al. Associations between renal malformations and abnormally for
med ears: Analysis of 32,589 newborns and newborn fetuses of the Mainz Congenital Birth Defect Monit
oring System. In: XXI David W Smith Workshop on Malformation and Morphogenesis, San Diego 2000.
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preauricular tags. Pediatrics 2000; 105:E61.
66. Leung AK, Robson WL. Association of preauricular sinuses and renal anomalies. Urology 1992; 40:259.
Topic 6299 Version 19.0
GRAPHICS
Pinna embryology
The auricle or pinna is formed from the fusion of six raised soft tissue swellings (hillocks)
on the surface of the embryo. Three of these hillocks are derived from the first branchial
arch (FBA) and three from the second branchial arch (SBA) during the fifth and sixth
weeks of intrauterine life. The hillocks of the FBA and SBA flank the first branchial cleft
(FBC). The FBA and SBA contribute almost equally to the immature pinna, whereas the
mature pinna predominantly originates from the SBA.
Original figure redrawn for this publication. Anson BJ, McVay CB. Surgical anatomy, 6th Edition,
Philadelphia: WB Saunders, 1984. Illustration used with the permission of Elsevier Inc. All rights
reserved.
Graphic 80743 Version 3.0
Auditory canal embryology
The medial-developing external auditory canal becomes filled with the meatal
plug, consisting of proliferating ectodermal cells that subsequently recanalize.
The tubotympanic recess has deepened to form the tympanic cavity. The otic
vesicle forms the endolymphatic duct and sac, early semicircular canals, and
cochlear diverticulum. The membranous labyrinth induces surrounding
mesenchyme to condense and ultimately form the stapes, incus, and malleus.
Tympanic membrane embryology
The external auditory canal is separated from the tympanic cavity by the
tympanic membrane, which has an inner layer of endoderm, a middle layer of
mesoderm, and an outer layer of ectoderm. The tympanic cavity has expanded
around the ossicles. The membranous labyrinth is contained within the bony
labyrinth. The perilympathic fluid that conducts sound to the cochlea
communicates acoustic energy through the oval and round windows.
OW: oval window.
Otic embryology
Axial histolologic section of the temporal bone at 12 weeks' gestation. Note the
developing incus (i), malleus (m), stapes (s), facial nerve (7), external auditory
canal (eac), and mesenchyme in the middle ear space (mes).
Courtesy of Glenn C Isaacson, MD, FAAP, FACS.
Cochlear embryology
This axial histologic section of the temporal bone at nine weeks' gestation
demonstrates the rudimentary vestiblule (v) and cochlea (c), with only one turn.
Genetic disorders and syndromes associated with microtia [1]
Inheritance
Gene(s) involved
pattern
Ablepharon-macrostomia syndrome TWIST2 AD
Antley-Bixler syndrome POR, FGFR2 AR
Auriculocondylar syndrome GNAI3, PLCB4, EDN1 AD, AR
Branchiooculofacial syndrome TFAP2A AD
Branchiootic syndrome, otofaciocervical syndrome EYA1, SIX1, SIX5 AD
CHARGE syndrome CHD7 AD
Congenital deafness, with inner ear agenesis, microtia, and microdontia FGF3 AR
Even-plus syndrome HSPA9 AR
Hemifacial microsomia (Goldenhar syndrome) Variable Sporadic, AD
Klippel-Feil syndrome GDF6 AD
Mandibulofacial dysostosis (MFD):
Treacher Collins syndrome TCOF1 AD
MFD, guion-almeida type EFTUD2 AD
Mandibulofacial dysostosis with alopecia EDNRA AD
Diamond-Blackfan anemia with MFD TSR2, RPS26, RPS28 XLR, AD
Meier-Gorlin syndrome ORC1, ORC4, ORC6, AR

CDT1, CDC6, CDC45L,
GMNN
Microtia, hearing impairment, and cleft palate HOXA2 AD, AR
Oculoauricular syndrome HMX1 AR
Townes-Brocks syndrome SALL1, DACT1 AD
Van Maldergem syndrome FAT4 AR
Walker-Warburg syndrome POMT1 AR
AD: autosomal dominant; AR: autosomal recessive; XLR: X-linked recessive.
References:
1. Bartel-Friedrich S. Congenital Auricular Malformations: Description of Anomalies and Syndromes. Facial Plast Surg 2015; 32:567.
Microtia
(A) Grade I
(B) Grade II
(C) Grade III
Lop ear deformity
Lop ear deformity: preoperative (panels on the left) and postoperative (panels
on the right) anterior and posterior views.
Preauricular pit
Note the small punctum in the preauricular area. This preauricular pit is draining
squamous material.
Branchio-oto-renal syndrome
Preauricular appendages and a second branchial fistula in branchio-oto-renal

syndrome.
Courtesy of Glenn C. Isaacson, MD.
Preauricular pit
This histologic specimen demonstrates a preauricular pit with cyst (s). Note the
proximity of the cyst to the cartilage at the root of the helix (c).
Preauricular pit excision
Removal of the preauricular pit should include excision of the pit, the squamous-lined cyst, and the cartilage at the root of the helix
en bloc to avoid recurrence.
Accessory auricular appendage
Note the accessory hillock (composed of skin, subcutaneous fat, and/or

cartilage) near the border of the sternocleidomastoid muscle.
External ear anomalies in a patient with CHARGE syndrome
The outer ear of a child with CHARGE syndrome showing typical findings including a wide helix superiorly, thin/absent helical
fold inferiorly, and absent earlobe.
CHARGE: Coloboma, Heart anomaly, choanal Atresia, Retardation, Genital and Ear anomalies.
Aural atresia
Failure of recanalization of the external auditory canal results in aural atresia.

This child has aural atresia with a normal pinna.
Axial CT of canal cholesteatoma in a child with aural

atresia/stenosis
Arrows surround the cholesteatoma.
A: atresia plate; CT: computed tomography.
Mondini malformation
Arrow indicates cochlea and vestibule reduced to a single cystic cavity.
Patent vestibular aqueduct
This child with an enlarged vestibular aqueduct (*) developed progressive

sensory-neural hearing loss after mild head trauma.
Contributor Disclosures
Glenn C Isaacson, MD, FAAP Nothing to disclose Anna H Messner, MD Nothing to disclose Helen V Firth, DM, FRCP,
DCH Nothing to disclose Carrie Armsby, MD, MPH Nothing to disclose
Contributor disclosures are reviewed for conflicts of interest by the editorial group. When found, these are addressed by
vetting through a multi-level review process, and through requirements for references to be provided to support the
content. Appropriately referenced content is required of all authors and must conform to UpToDate standards of evidence.
Conflict of interest policy

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10/9/2019 Congenital anomalies of the ear - UpToDate

Official reprint from UpToDate®

Congenital anomalies of the ear

● (See "Screening the newborn for hearing loss".)

OUTER EAR MALFORMATIONS

Accessory auricular appendage/preauricular tag — Accessory appendages composed of skin,

MIDDLE EAR MALFORMATIONS

INNER EAR MALFORMATIONS

ASSOCIATION WITH RENAL ANOMALIES

● Other malformations or dysmorphic features

● Family history of deafness or auricular or renal malformations

● Maternal history of gestational diabetes

● Branchio-oto-renal [BOR] syndrome

• Other malformations or dysmorphic features

• Family history of deafness or auricular or renal malformations

Use of UpToDate is subject to the Subscription and License Agreement.

17. Ewart-Toland A, Yankowitz J, Winder A, et al. Oculoauriculovertebral abnormalities in children of diabetic

19. Microtia-anotia. In: Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/omim (Accessed o

Topic 6299 Version 19.0

Graphic 80743 Version 3.0

Auditory canal embryology

Graphic 67764 Version 2.0

Tympanic membrane embryology

OW: oval window.

Graphic 74065 Version 6.0

Courtesy of Glenn C Isaacson, MD, FAAP, FACS.

Graphic 75999 Version 1.0

Courtesy of Glenn C Isaacson, MD, FAAP, FACS.

Graphic 75108 Version 2.0

Genetic disorders and syndromes associated with microtia [1]

Ablepharon-macrostomia syndrome TWIST2 AD

Antley-Bixler syndrome POR, FGFR2 AR

Auriculocondylar syndrome GNAI3, PLCB4, EDN1 AD, AR

Branchiooculofacial syndrome TFAP2A AD

Branchiootic syndrome, otofaciocervical syndrome EYA1, SIX1, SIX5 AD

CHARGE syndrome CHD7 AD

Even-plus syndrome HSPA9 AR

Hemifacial microsomia (Goldenhar syndrome) Variable Sporadic, AD

Klippel-Feil syndrome GDF6 AD

Mandibulofacial dysostosis (MFD):

Treacher Collins syndrome TCOF1 AD

MFD, guion-almeida type EFTUD2 AD

Mandibulofacial dysostosis with alopecia EDNRA AD

Diamond-Blackfan anemia with MFD TSR2, RPS26, RPS28 XLR, AD

Meier-Gorlin syndrome ORC1, ORC4, ORC6, AR

Microtia, hearing impairment, and cleft palate HOXA2 AD, AR

Oculoauricular syndrome HMX1 AR

Townes-Brocks syndrome SALL1, DACT1 AD

Van Maldergem syndrome FAT4 AR

Walker-Warburg syndrome POMT1 AR

AD: autosomal dominant; AR: autosomal recessive; XLR: X-linked recessive.

Graphic 115370 Version 1.0

Graphic 97284 Version 1.0

Lop ear deformity

Courtesy of Glenn C Isaacson, MD, FAAP, FACS.

Graphic 59636 Version 1.0

Courtesy of Glenn C Isaacson, MD, FAAP, FACS.

Graphic 75371 Version 1.0

Preauricular appendages and a second branchial fistula in branchio-oto-renal

Courtesy of Glenn C. Isaacson, MD.

Graphic 81273 Version 1.0

Courtesy of Glenn C Isaacson, MD, FAAP, FACS.

Graphic 65609 Version 1.0