Research & Literature

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Beleza-Meireles A, Hart R, Clayton-Smith J, et al.

European journal of medical genetics 2015; (58(9)):455-65.

Distinguishing Goldenhar Syndrome from Craniofacial Microsomia.

Tuin J, Tahiri Y, Paliga JT, et al.

The Journal of craniofacial surgery 2015; (26(6)):1887-92 doi:10.1097/SCS.0000000000002017.

[The etiology research progress of oculo-auriculo-vertebral spectrum].

Wang P, Fan Y, Chen X

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2015; (29(24)):2184-8.

Three-dimensional CT evaluation of oculoauriculovertebral spectrum patients use of Katsumata's asymmetry index.

Hofmann E, Schmid M, Steinhäuser-Andresen S, Hirschfelder U

Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie 2016; (77(3)):176-84 doi:10.1007/s00056-016-0022-8.

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.

Lopez E, Berenguer M, Tingaud-Sequeira A, et al.

Journal of medical genetics 2016; (53(11)):752-760 doi:10.1136/jmedgenet-2016-103774.

Late Recognition of a Case of Oculo-Auriculo-Vertebral Spectrum.

El Mansoury J, Mbekeani JN

Optometry and vision science : official publication of the American Academy of Optometry 2016; (93(11)):1449-1453 doi:10.1097/OPX.0000000000001002.

Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients.

Goetze TB, Sleifer P, Rosa RF, et al.

American journal of medical genetics. Part A 2017; (173(2)):309-314 doi:10.1002/ajmg.a.38017.

Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement.

Davide B, Renzo M, Sara G, et al.

Neuroradiology 2017; (59(3)):305-316 doi:10.1007/s00234-017-1795-1.

Reconstruction of nongrowing hemifacial microsomia patient with custom-made unilateral temporomandibular joint total joint prosthesis and orthognathic surgery.

Farzad P

Journal of oral biology and craniofacial research 2017; (7(1)):62-66 doi:10.1016/j.jobcr.2016.11.005.

Salivary glands abnormalities in oculo-auriculo-vertebral spectrum.

Brotto D, Manara R, Vio S, et al.

Clinical oral investigations 2018; (22(1)):395-400 doi:10.1007/s00784-017-2125-z.

Goldenhar syndrome: current perspectives.

Bogusiak K, Puch A, Arkuszewski P

World journal of pediatrics : WJP 2017; (13(5)):405-415 doi:10.1007/s12519-017-0048-z.

Costal Cartilage Assessment in Surgical Timing of Microtia Reconstruction.

Sun Z, Yu X, Chen W, et al.

The Journal of craniofacial surgery 2017; (28(6)):1521-1525 doi:10.1097/SCS.0000000000003751.

Airway Management in a Child with Goldenhar Syndrome.

Sun YH, Zhu B, Ji BY, Zhang XH

Chinese medical journal 2017; (130(23)):2881-2882 doi:10.4103/0366-6999.219146.

Exploring the Medical and Psychosocial Concerns of Adolescents and Young Adults With Craniofacial Microsomia: A Qualitative Study.

Hamilton KV, Ormond KE, Moscarello T, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2018; (55(10)):1430-1439 doi:10.1177/1055665618768542.

Multidisciplinary management of oculo-auriculo-vertebral spectrum.

Vong A, Funamura J

Current opinion in otolaryngology & head and neck surgery 2018; (26(4)):234-241 doi:10.1097/MOO.0000000000000468.

Goldenhar syndrome (oculo-auriculo-vertebral spectrum): Findings on cone beam computed tomography-3 case reports.

Maryanchik I, Nair MK

Oral surgery, oral medicine, oral pathology and oral radiology 2018; (126(4)):e233-e239 doi:10.1016/j.oooo.2018.04.009.

Abnormal soft palate movements in patients with microtia.

Kolodzynski MN, van Hoorn BT, Kon M, Breugem CC

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2018; (71(10)):1476-1480 doi:10.1016/j.bjps.2018.06.004.

Goldenhar syndrome with blepharophimosis and limb deformities: a case report.

Ding X, Wang X, Cao Y, et al.

BMC ophthalmology 2018; (18(1)):206 doi:10.1186/s12886-018-0872-5.

Goldenhar Syndrome - ophthalmologist's perspective.

Schmitzer S, Burcel M, Dăscălescu D, Popteanu IC

Romanian journal of ophthalmology 2018; (62(2)):96-104.

Imaging Findings in Syndromes with Temporal Bone Abnormalities.

Ginat DT

Neuroimaging clinics of North America 2019; (29(1)):117-128 doi:10.1016/j.nic.2018.08.004.

Early Mandibular Distraction in Craniofacial Microsomia and Need for Orthognathic Correction at Skeletal Maturity: A Comparative Long-Term Follow-Up Study.

Zhang RS, Lin LO, Hoppe IC, et al.

Plastic and reconstructive surgery 2018; (142(5)):1285-1293 doi:10.1097/PRS.0000000000004842.

Discussion: Early Mandibular Distraction in Craniofacial Microsomia and Need for Orthognathic Correction at Skeletal Maturity: A Comparative Long-Term Follow-Up Study.

Steinbacher DM

Plastic and reconstructive surgery 2018; (142(5)):1294-1298 doi:10.1097/PRS.0000000000004954.

Vertebral anomalies in craniofacial microsomia: a retrospective analysis of 991 patients.

Renkema RW, Caron CJJM, Wolvius EB, et al.

International journal of oral and maxillofacial surgery 2018; (47(11)):1365-1372 doi:10.1016/j.ijom.2018.05.016.

Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients.

Renkema RW, Caron CJJM, Pauws E, et al.

International journal of oral and maxillofacial surgery 2019; (48(9)):1169-1176 doi:10.1016/j.ijom.2019.01.031.

Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature.

Hansen-Algenstaedt N, Liem M, Khalifah S, et al.

Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews 2019; (3(7)):e805 doi:10.5435/JAAOSGlobal-D-17-00085.

Oculo-auriculo-vertebral spectrum with radial defects, a bifid condyle and taurodontism: A case report.

Desai V

Dental and medical problems 2019; (56(4)):427-431 doi:10.17219/dmp/110234.

Goldenhar Syndrome: A Report of Two Cases.

Kushwaha RK, Singh A, Mohta A, Jain SK

Indian dermatology online journal 2019; (10(6)):719-720 doi:10.4103/idoj.IDOJ_491_18.

Congenital Synostosis of Cervical Vertebrae: An Osteological Study and Review of the Literature.

Paraskevas GK, Noussios G, Koutsouflianiotis KN, Iliou K

Cureus 2019; (11(10)):e6015 doi:10.7759/cureus.6015.

Hemifacial microsomia: skeletal abnormalities evaluation using CBCT (case report).

Kabak SL, Savrasova NA, Zatochnaya VV, Melnichenko YM

Journal of radiology case reports 2019; (13(11)):1-9 doi:10.3941/jrcr.v13i11.3687.

Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.

Trimouille A, Tingaud-Sequeira A, Lacombe D, et al.

Clinical genetics 2020; (98(4)):384-389 doi:10.1111/cge.13811.

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

Adam AP, Curry CJ, Hall JG, et al.

American journal of medical genetics. Part A 2020; (182(11)):2646-2661 doi:10.1002/ajmg.a.61847.

Hemifacial Microsomia Review: Recent Advancements in Understanding the Disease.

Paul MA, Opyrchał J, Knakiewicz M, et al.

The Journal of craniofacial surgery 2020; (31(8)):2123-2127 doi:10.1097/SCS.0000000000006616.

Goldenhar syndrome: the importance of an ophthalmological approach.

Malta PG, Vilani DSRA, de Miranda CF, et al.

Romanian journal of ophthalmology 2020; (64(4)):444-448 doi:10.22336/rjo.2020.68.

Hemifacial Microsomia: Clinical Features and Associated Anomalies.

Allam KA

The Journal of craniofacial surgery 2021; (32(4)):1483-1486 doi:10.1097/SCS.0000000000007408.

Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study.

Rooijers W, Renkema RW, Loudon SE, et al.

International journal of oral and maxillofacial surgery 2021; (50(10)):1303-1311 doi:10.1016/j.ijom.2021.02.032.

Congenital abnormalities associated with microtia: A 10-YEARS retrospective study.

Paul A, Achard S, Simon F, et al.

International journal of pediatric otorhinolaryngology 2021; (146()):110764 doi:10.1016/j.ijporl.2021.110764.

Mandibular Distraction Osteogenesis for Tongue-Based Airway Obstruction Without Micrognathia.

Kosyk MS, Carlson AR, Zapatero ZD, et al.

Annals of plastic surgery 2022; (88(1)):54-58 doi:10.1097/SAP.0000000000002891.

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.

Güleray N, Koşukcu C, Oğuz S, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022; (59(9)):1114-1124 doi:10.1177/10556656211038115.

Multicorrection Goldenhar syndrome (facio-auriculo-vertebral dysplasia): a rare follow-up case of 12-year-old female.

Varma AR, Meshram RJ, Varma AR, et al.

The Pan African medical journal 2021; (39()):96 doi:10.11604/pamj.2021.39.96.27259.

Systematic Review of Medpor Versus Autologous Ear Reconstruction.

Ma Y, Lloyd MS

The Journal of craniofacial surgery 2022; (33(2)):602-606 doi:10.1097/SCS.0000000000008130.

A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.

Balaban İ, Bilgici MC, Baysal K

BMC pediatrics 2022; (22(1)):102 doi:10.1186/s12887-022-03137-0.

The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.

Estandia-Ortega B, Reyna-Fabián ME, Velázquez-Aragón JA, et al.

Life (Basel, Switzerland) 2022; (12(11)) doi:10.3390/life12111723.

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.

Celse T, Tingaud-Sequeira A, Dieterich K, et al.

Journal of medical genetics 2023; (60(6)):620-626 doi:10.1136/jmg-2022-108678.

Goldenhar syndrome associated with lacrimal system agenesis: A case report.

Tam MW, Boyle N

American journal of ophthalmology case reports 2023; (29()):101766 doi:10.1016/j.ajoc.2022.101766.

Expanding the Etiology of Oculo-Auriculo-Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36.

García-Castro M, Martinez-Merino T, Puente N, Riancho JA

International journal of molecular sciences 2022; (24(1)) doi:10.3390/ijms24010036.

Optimal surgical timing for ear reconstruction with autologous cartilage: Analysis of the computed tomography scan characteristics of the ribs.

Asirova G, Wynands J, Frolov S, et al.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2024; (88()):15-23 doi:10.1016/j.bjps.2023.10.064.

Virtual planning for corrections of hemifacial microsomia.

Sugar A, Evans P, Bartlett S, Key S

Innovative surgical sciences 2023; (8(3)):159-183 doi:10.1515/iss-2021-0010.

Goldenhar Syndrome: Quality-of-Life Analysis of 43 Consecutive Patients.

Schneider J, Jehn P, Gellrich NC, et al.

The Journal of craniofacial surgery 2024; (35(4)):1170-1173 doi:10.1097/SCS.0000000000010057.

Complex Presentation of Goldenhar Syndrome in a Preterm Neonate: A Case Report.

Saini V, Sharma H, Cherukuri AMK, et al.

Cureus 2024; (16(7)):e63624 doi:10.7759/cureus.63624.

Hemifacial Microsomia Surgical Approach and Anotia Reconstruction: A Case Report.

Bini A, Derka S, Stavrianos S

In vivo (Athens, Greece) 2024; (38(5)):2550-2556 doi:10.21873/invivo.13729.

Goldenhar syndrome associated with increased risk of respiratory failure and reoperations following spinal deformity surgery.

Gouzoulis MJ, Jabbouri SS, Seddio AE, et al.

Spine deformity 2025; (13(1)):205-210 doi:10.1007/s43390-024-00963-3.

Goldenhar Syndrome Complicated by Hemifacial Microsomia and Unilateral Cleft Palate Absence.

Chen H, Shen W

The Journal of craniofacial surgery 2024; doi:10.1097/SCS.0000000000010555.

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.

Pingault V, Neiva-Vaz C, de Oliveira J, et al.

European journal of human genetics : EJHG 2025; (33(1)):131-136 doi:10.1038/s41431-024-01698-5.

Managing Limbal Dermoids in Patients with Goldenhar Syndrome: A Case Series.

Tripathi A, Mohan S, Pathak L

Romanian journal of ophthalmology 2024; (68(3)):306-311 doi:10.22336/rjo.2024.55.

Cervical spine considerations in Goldenhar syndrome: a clinical perspective.

Gadiraju S, Jacob GA, Mazzola CA

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (41(1)):65 doi:10.1007/s00381-024-06727-8.

[The application of porous polyethylene biological scaffolds combined with temporoparietal fascial flaps in auricular reconstruction].

Lin K, DU Y, Huang R, et al.

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2025; (39(2)):147-151;157 doi:10.13201/j.issn.2096-7993.2025.02.010.

Ear malformation in a child with Goldenhar syndrome and its appropriate audiological management.

González Fernández A, Del Carmen Zapata M, Zubicaray Ugarteche J

Anales del sistema sanitario de Navarra 2025; (48(1)).

Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.

Sequeira A, Sagardoy T, Bourgeade L, et al.

European journal of human genetics : EJHG 2025; (33(5)):683-687 doi:10.1038/s41431-025-01837-6.

Orthognathic Surgery of Goldenhar Syndrome Patient With Absent Bilateral Mental Foramina.

Kim J, Yang H, Chung JH

The Journal of craniofacial surgery 2025; doi:10.1097/SCS.0000000000011453.

Surgical Management Options for Infants with Pierre Robin Sequence: Establishing a Standard.

Torres GB, Brondeel KC, Geisler EL, Konofaos P

The Journal of craniofacial surgery 2026; (37(5)):982-986 doi:10.1097/SCS.0000000000012233.

Morphological changes in the upper airway after mandibular distraction osteogenesis and orthognathic surgery in paediatric and adult patients with hemifacial microsomia: a 3D retrospective study.

Younis H, Song L, Zhou Z, et al.

International journal of oral and maxillofacial surgery 2026; doi:10.1016/j.ijom.2026.01.013.

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Lee RS, Craigen F, Tsirikos AI

Cureus 2026; (18(1)):e101469 doi:10.7759/cureus.101469.