*4.3.1. Preauricular and auricular ear tags and pits*

Auricular and preauricular ear tags and pits (**Figures 5** and **6**) are frequent findings on routine neonatal physical examinations, occurring at a frequency of 1 in 12,500 births [25]. The incidence of spontaneous formation of external ear pits in the non-syndromic population ranges between 0.3 and 1.3%, it equally affects both sexes and it has no race predilection. The incidence of unilateral preauricular sinus is 1.3% and that of bilateral preauricular sinus is 0.3%. The rate of genetic transmission of bilateral preauricular sinus was higher in children with a parent with this condition, compared to the cases of unilateral preauricular sinus.

The ear begins to develop in the 6th week of gestation, from the first and second branchial arches. A series of 6 mesenchymal proliferations is formed, known as hillocks of His, which subsequently fuse to form the definitive auricle. The first three hillocks are derived from the first branchial arch and form the tragus, crus of the helix and helix, and the other three hillocks are derived from the second arch and form the antihelix, scapha, and the lobule.

Auricular fistulas are small pits/openings, located anywhere at the anterior margin of the

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These auricular abnormalities can be found in isolation or as part of a genetic syndrome. All newborns will need a hearing assessment later because outer ear abnormalities can be associated with additional abnormalities such as shape abnormalities (helical ear pits), asymmetry, posterior angulation, small size, absent tragus, and narrow external auditory meatus [26], middle or

These patients should be examined for any other malformations in an attempt to include the

• **Craniofacial microsomia**: association of auricular nodules with other external ear abnormalities, progressive hearing loss, palatoschisis, maxillary and/ or mandibular hypoplasia and renal abnormalities. These children require audiological assessment and renal ultraso-

• **Branchio-oto renal syndrome (BOR)**: the association of auricular fistulae with other outer ear abnormalities, renal abnormalities and Brachial cleft fistulae. These children require auditory and renal echography, and from the point of view of genetic diagnosis, EYA1,

• **Beckwith-Wiedemann syndrome**: auricular fistulae associated with ear lobe asymmetry

• **Oculo-auriculo-vertebral dysplasia (Goldhar Syndrome)**: associates auricular nodules,

nography, and from the point of view of genetic diagnosis, karyotype testing.

upper eyelid coloboma, outer ear deformities and vertebral abnormalities

• **Chromosome arm 4p deletion syndrome**: Preauricular dimples or skin tags

• **Chromosome arm 11q duplication syndrome**: Preauricular tags or pits

• **Chromosome arm 5p deletion syndrome**: Preauricular tags

auricle, from crus of the helix to helix, and are lined by squamous epithelium.

inner ear malformations, and with progressive hearing loss.

anomaly in a genetic syndrome such as [2, 26–29]:

**Figure 6.** Preauricular tag.

SIX5, SIX1 sequencing is required.

Auricular fistulas may be caused by faulty or incomplete fusion of the hillocks or by localized folding of the ectoderm. Genetic tests suggest that preauricular fistula appears due to an abnormality in chromosome 8q11.1-q13.3 [25].

Preauricular tags may be caused by supernumerary development of the first 3 hillocks of the first branchial arch.

Auricular fistulas are small, pigmented, benign congenital formations [26], located in the tegument and auricular and periauricular soft tissues, anywhere along a line drawn from the tragus to the angle of the mouth. They were first described by Van Heusinger in 1864.

**Figure 5.** Preauricular tag.

**Figure 6.** Preauricular tag.

Auricular malformations in newborns may be genetic (associated with syndromes or not, with family history, spontaneous mutations) or intrauterine (acquired by deformation mechanisms). External ear malformations may involve the orientation, position, size, and external configu-

Auricular and preauricular ear tags and pits (**Figures 5** and **6**) are frequent findings on routine neonatal physical examinations, occurring at a frequency of 1 in 12,500 births [25]. The incidence of spontaneous formation of external ear pits in the non-syndromic population ranges between 0.3 and 1.3%, it equally affects both sexes and it has no race predilection. The incidence of unilateral preauricular sinus is 1.3% and that of bilateral preauricular sinus is 0.3%. The rate of genetic transmission of bilateral preauricular sinus was higher in children with a

The ear begins to develop in the 6th week of gestation, from the first and second branchial arches. A series of 6 mesenchymal proliferations is formed, known as hillocks of His, which subsequently fuse to form the definitive auricle. The first three hillocks are derived from the first branchial arch and form the tragus, crus of the helix and helix, and the other three hill-

Auricular fistulas may be caused by faulty or incomplete fusion of the hillocks or by localized folding of the ectoderm. Genetic tests suggest that preauricular fistula appears due to an

Preauricular tags may be caused by supernumerary development of the first 3 hillocks of the

Auricular fistulas are small, pigmented, benign congenital formations [26], located in the tegument and auricular and periauricular soft tissues, anywhere along a line drawn from the

tragus to the angle of the mouth. They were first described by Van Heusinger in 1864.

ration of the pinna. The absence of the external ear can be identified (anotia).

parent with this condition, compared to the cases of unilateral preauricular sinus.

ocks are derived from the second arch and form the antihelix, scapha, and the lobule.

*4.3.1. Preauricular and auricular ear tags and pits*

514 Congenital Anomalies - From the Embryo to the Neonate

abnormality in chromosome 8q11.1-q13.3 [25].

first branchial arch.

**Figure 5.** Preauricular tag.

Auricular fistulas are small pits/openings, located anywhere at the anterior margin of the auricle, from crus of the helix to helix, and are lined by squamous epithelium.

These auricular abnormalities can be found in isolation or as part of a genetic syndrome. All newborns will need a hearing assessment later because outer ear abnormalities can be associated with additional abnormalities such as shape abnormalities (helical ear pits), asymmetry, posterior angulation, small size, absent tragus, and narrow external auditory meatus [26], middle or inner ear malformations, and with progressive hearing loss.

These patients should be examined for any other malformations in an attempt to include the anomaly in a genetic syndrome such as [2, 26–29]:


De novo appearance of these auricular abnormalities associated with those on the face and neck may be related to the use of propylthiouracil in early pregnancy to treat maternal hyperthyroidism [30].

Collins syndrome [34], jaw deformities, vertebral anomalies [35], heart defects, limb abnor-

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Auricular atresia is the underdevelopment of the middle ear and auditory canal, and it occurs relatively frequently in conjunction with microtia, since newborns with microtia have no external opening to the ear canal, although the cochlea and the other internal ear structures are usually present. The degree of microtia usually correlates to the grade of underdevelopment

The assessment of newborns and infants with microtia-anotia should include a thorough clinical examination for the detection of associated structural defects, pediatric audiological test, multi-disciplinary consultation with the genetic specialist, pediatric otolaryngologist, and pedi-

A minor anomaly does not require surgical correction. When the auricle is very deformed or absent (grades III and IV), reconstruction is often required for esthetic reasons. Most reconstructive interventions are recommended after the age of 6–10 years old, when the ear pavil-

The management of a microtia case associated with an auditory meatus defect is performed by long term periodic audiological monitoring, especially if there is an atresia of the auditory meatus, with the possible placement of an amplification device, especially in the case of the

The surgical procedure for restoring the pinna is complex and is performed in several stages, with esthetic results that vary greatly, as the outer ear structure is difficult to duplicate [40]. A plastic surgical alternative is the use of a synthetic prosthetic pinna or a pinna obtained via the

Macrotia refers to an oversized or enlarged but well-developed auricle without any other malformations of the ear (**Figure 7**). The most exaggerated portion of the ear is the scaphoid fossa.

Generally, it has an autosomal dominant pattern of transmission and an unknown pathogenesis [42].

• Fragile X-syndrome: macrotia with floppy cartilage, associated with mild or profound X-

• Cerebro-oculo-facial-skeletal syndrome (COFS): macrotia associated with neurogenic ar-

three-dimensional printing technology, but the research is still underway [41].

malities, renal abnormalities and holoprosencephaly [32, 36].

of the middle ear [37, 38].

atric plastic surgeon.

*4.3.2.1. Management*

bilateral forms [39].

*4.3.3. Macrotia*

linked retardation [43].

ion has 80% of the size of an adult ear.

The condition is usually bilateral and symmetric.

throgryposis, microcephaly, micro-ophthalmia.

Macrotia is commonly associated with the following syndromes:

• Marfan Syndrome: large auricle with dropped, floppy cartilage

When auricular fistulae and nodules are isolated, no further evaluation is required for these children [2].

Most cases with typical location of auricular and preauricular fistulas are asymptomatic and do not require surgery. They can retain epithelial and sebum debris, and can evolve to subcutaneous cysts or infection. This may in turn lead to cellulitis or abscess, and may require aspiration of the collection if the antibiotic therapy is not responding. In cases of recurrent cyst infection, surgical excision of the cyst and the fistula tract is indicated. A preauricular fistulae may vary in length, may have a sinuous tract or may be extensively branched. If there are auricular fistulas and subcutaneous cysts, they adhere to the auricular perichondritis. Thus, complete elimination of the fistula or cyst should also include a portion of the auricular perichondritis at the base of the lesion [26]. Auricular and preauricular nodules can be excised for esthetic reasons.

### *4.3.2. Microtia*

Microtia is a congenital anomaly characterized by the underdevelopment of the outer ear, while anotia is the complete absence of the ear. Because microtia and anotia have the same origin, they can be described as microtia-anotia [31].

Microtia can be unilateral or bilateral and its frequency is of approximately 1–3 to every 10,000 births [32]. In the case of unilateral microtia, the right ear is most frequently affected [31].

Etiologically, the administration of the teratogenic agent called isotretinoin (Accutane®) during pregnancy may lead to these congenital auricular abnormalities (anotia/microtia).

The pathogenesis of microtia is heterogeneous, and there have been indications of unique genetic mutations or its presence as a family trait [33].

Microtia has a broad spectrum of phenotypic aspects, from the uncomplicated hereditary one, (which is transmitted as a dominant feature, and it is most often harmless), to severe, complicated forms of hearing loss. From a clinical point of view, four grades of microtia have been described:


Isolated microtia is relatively common, but it can be found in newborns in association with other facial dysmorphisms, such as hemifacial microsomia, Goldenhar syndrome or Treacher Collins syndrome [34], jaw deformities, vertebral anomalies [35], heart defects, limb abnormalities, renal abnormalities and holoprosencephaly [32, 36].

Auricular atresia is the underdevelopment of the middle ear and auditory canal, and it occurs relatively frequently in conjunction with microtia, since newborns with microtia have no external opening to the ear canal, although the cochlea and the other internal ear structures are usually present. The degree of microtia usually correlates to the grade of underdevelopment of the middle ear [37, 38].

The assessment of newborns and infants with microtia-anotia should include a thorough clinical examination for the detection of associated structural defects, pediatric audiological test, multi-disciplinary consultation with the genetic specialist, pediatric otolaryngologist, and pediatric plastic surgeon.
