Table 1 Characteristics of the studies of phenotypes in microtia

1.

Gimelli/Italy/2013 [11]

CR

1

F

TCS, CFM

UNI - R

-

External auditory canal stenosis, CT-Scan: aplasia cranial fossa floor, reduced tympanic volume, Dysplasia of Malleus incudal and Stapes-incudal articulations

2.

Glaeser/Brazil/2021 [12]

CR

1

F

CES, OAVS, CFM

UNI - L

-

External auditory canal atresia, Preauricular tags, Hypertelorism, downward slanting palpebral fissures, epicanthic folds, cerebral hypoplasia, ventricular dilatation

3.

Tassano/Italy/2015 [13]

CR

1

F

-

UNI -L

-

External auditory canal atresia, cleft palate, SNHL, CT-Scan: reduced tympanic volume, Dysplasia of Malleus incudal and Stapes-incudal articulations, Hypoplasia of mastoid complex

4.

Chaves/Brazil/2019 [14]

CR

1

M

-

-

-

High-arched palate, Dolichocephaly, Narrow face, intellectual disability

5.

Huang/China/2013 [15]

CR

1

F

CFM

UNI -L

-

Anophthalmia, orbital hypoplasia, eyelid coloboma, preauricular tags, Cheek / soft tissue tags, Mandibular hypoplasia, cleft lip & palate, macrostomia, hypertelorism, CT Scan: Zygoma/malar hypoplasia, maxillary hypoplasia, Incomplete Closure of the anterior fontanelle, Fissure in the alveolar crest, Forehead retrusion

6.

Kim/South Korea/2020 [16]

CR

1

M

MFDM

-

-

Low set ears, micrognathia, microcephaly, Mixed Hearing loss

7.

Goldmuntz/Philadelphia/2011 [17]

CR

1

-

CFM

UNI -R

-

Posterior embryotoxon, high-arched palate, epicanthic folds, tented lip,

8.

Brun/France/2012 [18]

CR

1

M

15q24

deletion Syndrome, OAVS, CFM

UNI -R

IV

Mandibular hypoplasia, High anterior hairline, Broad Medial eyebrow, Bulbous nose, Zygoma / malar hypoplasia, CHL, ID

9.

Koprulu/Turkey/2021 [19]

CR

1

M

Fraser Syndrome

-

I

Hypertrophied frontal & maxillary sinuses, underdeveloped supraorbital ridge, prominent maxilla with overbite and malocclusion,perincisors are overjet, retrognathia,diastema, dental crowding, and unerupted teeth,

10.

Hu/America/2019 [20]

CR

1

-

-

-

-

Cleft lip & palate, semi lobar HPE, Corpus Callosum Dysgenesis

11.

Jarzabek/Poland/2012 [21]

CR

1

M

Kallmann Syndrome

UNI - R

-

Preauricular tags, cleft lip & palate, Zygoma/Malar hypoplasia, Prognathism, Exophthalmia, P rominent Nasal Bone,

12.

DeGolovine/Texas/2012 [22]

CR

1

F

Goldenhar Syndrome, CFM

UNI -L

-

External auditory canal stenosis,preauricular tags, Hyper-segmented Cervical Vertebrae (C2-C3), Downward Slant of mouth side

13.

Griffith/Indianapolis/2009 [23]

CR

1

M

Trisomy 13 mosaicism

UNI - R

-

High-arched palate, epicanthic folds, Bulbous nose, Sloping forehead with a telangiectatic nevus, Deep-set eyes, Thin Upper Lip

14.

Knapp/Maryland/2020 [24]

CR

1

M

MGORS

UNI - R

-

Cleft palate, Optic Nerve hypoplasia, Bifid Uvula

15.

Saviola/Italy/2021 [25]

CR

1

M

Coffin- Siris Syndrome

UNI - R

-

Corpus Callosum Dysgenesis, Hashimoto Thyroiditis

16.

Lacour/New Orleans/2018 [26]

CR

1

M

MFDM, CFM

BIL

RI/LIII

External auditory canal atresia, micrognathia, Zygoma/Malar hypoplasia, Dysplastic Ear, Etopic craniosynostosis, Trigonocephaly

17.

Lalani/Texas/2019 [27]

CR

1

-

-

-

-

Low set ear, micrognathia, speech delayed

18.

Bragagnolo/Brazil/2016 [28]

CR

1

F

WHS

UNI - L

-

Dermoid, preauricular tags, cleft palate, High Forehead, Tracheal Stenosis & malacia, Frontal Periventricular Gliosis

19.

Knapp/New Zealand/2020 [29]

CR

1

F

MGORS

UNI - L

-

Micrognathia, Prominent Nose, Full Bottom Lip

20.

Liu/China/2021 [30]

CR

1

M

TCS

UNI - L

-

Cup Ear deformity, mandibular hypoplasia, micrognathia, downward slanting palpebral fissures, Zygoma/Malar hypoplasia,

21.

Maya/Israel/2020 [31]

CR

1

F

Beals Syndrome

-

-

Micrognathia

22.

Okamoto/Japan/2022 [32]

CS

2

M:1

F: 1

-

-

Hypertelorism, low set ears, high-arched palate, micrognathia: 2

Microcephaly, SNHL : 1

23.

Brophy/Iowa USA/2013 [33]

CS

3

M: -

F: -

BOR: 3

-

-

Ext. Audit. Canal atresia, cup ear deformity, untyped hearing loss: 2

Ext. Audit. Canal stenosis, preauricular pits, branchial fistula, branchial tag, smallmouth: 1

24.

Bukowska/Poland/2020 [34]

CS

3

M: 1

F: 2

TCS: 3

-

-

Mandibular hypoplasia, downward slanting palpebral fissures, maxillary hypoplasia, CHL: 3

Cleft & lip palate, absence of eyelid : 2

25.

Schmid/German/1985 [35]

CS

3

M: 2

F: 1

OAVS: 3

UNI: 3

-

External auditory canal atresia: 3 Right-sided palatoplegia: 2

ysplasia M. Incudal and stapes-incudal articulations, granulomatous eardrum and the mastoid region, fistula of the ear: 1

26.

Sutphen/Texas/1995 [36]

CS

2

M: - F: 2

Goldenhar Syndrome: 2

CFM: 2

UNI: 2

I :1

III: 1

External auditory canal stenosis, mandibular hypoplasia: 2

Preauricular pits, macrostomia: 1

27.

Tingaud- Sequeira/France/2021 [37]

CS

2

M: 2 F: -

Goldenhar Syndrome: 2

CFM: 1

BIL: 2

III: 4

External auditory canal atresia, cleft palate, dysplastic ear: 2

Mandibular hypoplasia, zygoma/malar hypoplasia, maxillary hypoplasia: 1

28.

Kim/South Korea/2017 [38]

CS

2

M: 1

F: 1

-

-

-

External auditory canal stenosis, low set ears, high-arched palate, micrognathia, narrow nose, high nasal bridge, small mouth with full lips, microstomia: 2, Dysplastic ear, tracheal stenosis & malacia: 1

29.

Jung/New York/2020 [39]

CS

4

M: -

F: -

-

-

-

Microcephaly, hydrocephalus, tracheoesophageal fistula: 3

External auditory canal stenosis, esophageal fistula, microphthalmia: 1

30.

Su/Taiwan/2007 [40]

CS

5

M: 2

F: 3

OAVS: 4

TCS: 1

CFM: 3

UNI: 4

BIL: 1

-

External auditory canal atresia: 4 Micrognathia, dysplasia of malleus incudal and stapes-incudal articulations, zygoma/malar hypoplasia: 3

Preauricular pits, mandibular hypoplasia, lateral oral cleft: 2 Cleft palate, downward slanting palpebral fissures, epicanthic folds,

maxillary hypoplasia, dysplastic ear, multiple pinnae on the side, partial absence of eyelashes, ptosis: 1

31.

Martelli- Junior/Brazil/2009 [41]

CS

4

M: -

F: -

TCS: 4

-

-

Eyelid coloboma, low set ears, downward slanting palpebral fissures, zygoma/malar hypoplasia, dysplastic ear, narrowed palate, partial absence of eyelashes,retrusive mandibular, facial implantation of the hair : 3

Narrowed frontal bone: 2 Anterior open bite: 1

32.

Chen/China/2018 [42]

CS

19

M:11 F: 8

TCS: 19

I: 8,

II: 6

III: 4

Middle ear hypoplasia: 10; External auditory canal atresia: 11; CHL: 10; External auditory canal atresia: 8; Untyped hearing loss: 3; Mixed type hearing loss, cholesteatoma: 2; Cleft palate: 1

33.

Patton/London/1995 [43]

CS

5

M: 7 F: -

BOR: 5

UNI: 4

BIL: 1

-

External auditory canal atresia: 5 Cleft palate, dysplasia malleus incudal andstapes-incudal articulations, dysplastic ears: 1

34.

Royer- Bertrand/Switzerland/2015 [44]

CS

3

F: 3

EVEN-PLUS: 3

BIL: 3

II: 1

IV: 2

Flat nose, triangular nostrils, arched & synophrys eyebrows: 3 Aplasia cutis on the skull: 2

Persistent open anterior fontanelle, two lateral hair whorls, midface hypoplasia, brachycephaly, high palate,hypodontia,short neck: 1

35.

Heike/North America/2016 [45]

CH

91

-

CFM: 91

UNI: 80

BIL: 11

-

Dermoid: 7; Eyelid Coloboma: 2 ; External Auditory Canal Atresia: 36; Preauricular Tags: 22 ; Mandibular Hypoplasia: 46 ; Lateral Oral Cleft 8 ; Cleft Palate: 3 ; Cleft Lip Palate: 6

36.

Luquetti/US/2019 [46]

CH

103

-

CFM: 103

UNI: 72

BIL: 31

-

-

(unclear)

37.

Zhang/China/2016 [47]

CH

984

-

CFM: 984

UNI: 1062

BIL: 42

II:241

III:727 IV: 16

-

(unclear)

38.

Luquetti/US/2015 [48]

CC

70

M:49 F: 21

-

-

(unclear)

39.

Monks/UK/2010 [7]

CC

12

M: 7

F: 5

-

UNI: 11

BIL: 1

II: 6

III: 3

IV: 3

-

(isolated microtia)

40.

Zhang/China/2009 [49]

CC

121

-

-

-

-

-

(isolated microtia)