goldenhar syndrome


Summary: Mandibulofacial dysostosis with congenital eyelid dermoids.

Top Publications

  1. Kokavec R. Goldenhar syndrome with various clinical manifestations. Cleft Palate Craniofac J. 2006;43:628-34 pubmed
    Four case reports of children with clinical features of Goldenhar syndrome are described...
  2. Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou Tzeli S. Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Genet Couns. 2006;17:359-70 pubmed
    ..Precise evaluation of GS patients and multidisciplinary care management is necessary to avoid possible complications of many systems and to offer appropriate genetic counselling to the family...
  3. Wieczorek D, Ludwig M, Boehringer S, Jongbloet P, Gillessen Kaesbach G, Horsthemke B. Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet. 2007;121:369-76 pubmed
    ..0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet (Maandschr Kindergeneeskd 36:352-367, 1968)...
  4. Araneta M, Moore C, Olney R, Edmonds L, Karcher J, McDonough C, et al. Goldenhar syndrome among infants born in military hospitals to Gulf War veterans. Teratology. 1997;56:244-51 pubmed
    Reports in the popular press described the occurrence of Goldenhar syndrome among children of Persian Gulf War veterans (GWVs)...
  5. Farra C, Yunis K, Mikati M, Yazbeck N, Majdalani M, Awwad J. Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence?. Birth Defects Res A Clin Mol Teratol. 2010;88:582-5 pubmed publisher
    b>Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a complex, heterogeneous condition characterized by abnormal prenatal development of facial structures...
  6. Yusufoğlu A, Cetinkaya E, Ceylaner S, Aycan Z, Kibar E, Ekici F, et al. Goldenhar syndrome associated with growth hormone deficiency. Genet Couns. 2008;19:173-6 pubmed
    b>Goldenhar syndrome is a rare disorder of unknown etiology. The most frequent findings are vertebral defects, hemifacial microsomia and ear abnormalities. We present an 8-year-old boy with oculo-auriculo-vertebral (Goldenhar) syndrome...
  7. Jena A, Duggal R. Atypical goldenhar syndrome: a case report. J Clin Pediatr Dent. 2006;31:118-22 pubmed
    A patient with atypical Goldenhar syndrome is reported. The characteristic features similar to the other reported cases are facial asymmetry, multiple skin tags, limbal dermoids and posteriorly angulated ear...
  8. Martelli H, Miranda R, Fernandes C, Bonan P, Paranaíba L, Graner E, et al. Goldenhar syndrome: clinical features with orofacial emphasis. J Appl Oral Sci. 2010;18:646-9 pubmed
    b>Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects...
  9. Khalil S, Vinh B. Successful intubation of a child with Goldenhar syndrome, who previously failed intubation, using an Airtraq. Paediatr Anaesth. 2010;20:204-5 pubmed publisher

More Information


  1. Jakobiec F, Pineda R, Rivera R, Hsu Winges C, Cherwek D. Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature. Surv Ophthalmol. 2010;55:78-84 pubmed publisher
    ..polypoidal lipodermoid coloboma accompanied by an upper eyelid coloboma that was not associated with Goldenhar syndrome. Histopathologically the excised lesion displayed superficial layers of epidermis and a thin dermis with ..
  2. Vinay C, Reddy R, Uloopi K, Madhuri V, Sekhar R. Craniofacial features in Goldenhar syndrome. J Indian Soc Pedod Prev Dent. 2009;27:121-4 pubmed publisher
    b>Goldenhar syndrome also known as oculo-auriculo-vertebral syndrome was first reported by Dr Maurice Goldenhar in 1952...
  3. Vilkki S, Hukki J, Nietosvaara Y, Hurmerinta K, Suominen E. Microvascular temporomandibular joint and mandibular ramus reconstruction in hemifacial microsomia. J Craniofac Surg. 2002;13:809-15 pubmed a 4-year-old hemifacial microsomia patient with multiple craniofacial and extracranial anomalies (Goldenhar syndrome)...
  4. Digilio M, Calzolari F, Capolino R, Toscano A, Sarkozy A, de Zorzi A, et al. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A. 2008;146A:1815-9 pubmed publisher
  5. Engiz O, Balci S, Unsal M, Ozer S, Oguz K, Aktas D. 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings. Genet Couns. 2007;18:277-88 pubmed
    b>Goldenhar syndrome (GS) or oculoauriculovertebral dysplasia (OAVD) is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities and vertebral anomalies of different size and shape...
  6. Anderson P, David D. Spinal anomalies in Goldenhar syndrome. Cleft Palate Craniofac J. 2005;42:477-80 pubmed
    b>Goldenhar syndrome consists of the triad of craniofacial microsomia, occular dermoid cysts, and spinal anomalies...
  7. Ottaviano G, Calzolari F, Martini A. Goldenhar syndrome in association with agenesia of the internal carotid artery. Int J Pediatr Otorhinolaryngol. 2007;71:509-12 pubmed
    The association between Goldenhar syndrome and homolateral internal carotid artery agenesis to our knowledge, has never emerged before. We present a case report in a female child that was examined with tonal audiometry, A.B.R...
  8. Kaneyama K, Segami N, Hatta T. Congenital deformities and developmental abnormalities of the mandibular condyle in the temporomandibular joint. Congenit Anom (Kyoto). 2008;48:118-25 pubmed publisher
    ..In addition, the molecular-based etiology of anomalies of the mandibular condyle is also discussed...
  9. D Hermies F, Saragoussi J, Meyer A, Morel X, Fayet B, Dighiero P, et al. [Limbal dermoid and Goldenhar syndrome. Report of an anatomoclinical study]. J Fr Ophtalmol. 2001;24:893-6 pubmed
    ..This additional change allowed us to establish the diagnosis of a minor form of Goldenhar syndrome. This malformative syndrome typically includes several changes: dermoid and/or dermolipoma, preauricular ..
  10. Strömland K, Miller M, Sjögreen L, Johansson M, Joelsson B, Billstedt E, et al. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A. 2007;143A:1317-25 pubmed
    ..Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy...
  11. Hartsfield J. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia). Orthod Craniofac Res. 2007;10:121-8 pubmed
    ..The same genetic-environmental factors and or etiological mechanisms may then be investigated in apparently sporadic cases...
  12. Mehta B, Nayak C, Savant S, Amladi S. Goldenhar syndrome with unusual features. Indian J Dermatol Venereol Leprol. 2008;74:254-6 pubmed
    We report here the case of a 17 year-old girl with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia) and cervical lordosis...
  13. Vendramini S, Richieri Costa A, Guion Almeida M. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature. Eur J Hum Genet. 2007;15:411-21 pubmed
    ..We postulate that radial defects associated with OAVS might represent a subset within this spectrum...
  14. Rosa R, Silva A, Goetze T, Bier B, Almeida S, Paskulin G, et al. Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Braz J Otorhinolaryngol. 2011;77:455-60 pubmed
    ..Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches...
  15. Tasse C, Böhringer S, Fischer S, Lüdecke H, Albrecht B, Horn D, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005;48:397-411 pubmed
  16. Lima M, Marques Y, Alves S, Ortega K, Soares M, Magalhães M. Distraction osteogenesis in Goldenhar Syndrome: case report and 8-year follow-up. Med Oral Patol Oral Cir Bucal. 2007;12:E528-31 pubmed
    b>Goldenhar syndrome is a well-known condition featuring the following triad of anomalies: ocular abnormalities, microtia and vertebral anomalies. This syndrome involves structures arising from the first and second branchial arches...
  17. Rivera Vega M, Dueñas E, Jimenez Vaca A, Valdes Flores M, González Huerta L, Kofman Alfaro S, et al. A novel association in a family with oculo-auriculo-vertebral spectrum and x-linked ichthyosis. Pediatr Dermatol. 2003;20:182-4 pubmed
  18. Lam J, Dohil M. Multiple accessory tragi and hemifacial microsomia. Pediatr Dermatol. 2007;24:657-8 pubmed
  19. Dufton L, Speltz M, Kelly J, Leroux B, Collett B, Werler M. Psychosocial outcomes in children with hemifacial microsomia. J Pediatr Psychol. 2011;36:794-805 pubmed publisher
    ..This study provides the first evidence of relatively poor psychosocial outcomes among children with HFM. ..
  20. Masden D, Baker S. A novel approach for correcting mandibular asymmetry with a combination of autologous fat and alloplastic implants. Aesthet Surg J. 2010;30:513-5 pubmed publisher
  21. Miura M, Sando I, Takasaki K, Haginomori S, Hirsch B. Histopathologic study of temporal bone and eustachian tube in oculoauriculovertebral spectrum. Ann Otol Rhinol Laryngol. 2001;110:922-7 pubmed
    ..We discuss the implications of the observed anomalies with regard to developmental and clinical issues. ..
  22. Rao V, Kaliaperumal S, Subramanyan T, Rao K, Bhargavan R. Goldenhar's sequence with associated juvenile glaucoma in Turner's syndrome. Indian J Ophthalmol. 2005;53:267-8 pubmed
  23. Das A, Ray B, Das D, Das S. A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb. Indian J Ophthalmol. 2008;56:150-2 pubmed
    ..The association of hypoplastic thumb with Goldenhar-Gorlin syndrome has not been documented in the past...
  24. Kallen K, Robert E, Castilla E, Mastroiacovo P, Kallen B. Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS). Am J Med Genet A. 2004;127A:26-34 pubmed
    ..An association between two conditions indicates similarities in pathogenesis or in etiology. We suggest that the connection between OAV and CHARGE could be related to a common pathogenetic mechanism: disturbed neural crest development. ..
  25. Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke H, Gillessen Kaesbach G, et al. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol. 2007;16:1-7 pubmed
    ..summarize the different phenotypic expressions of a continuum that has been known as hemifacial microsomia, Goldenhar syndrome, or first and second branchial arch anomalies...
  26. Schoemann M, Burstein F, Bakthavachalam S, Williams J. Immediate mandibular distraction in mandibular hypoplasia and upper airway obstruction. J Craniofac Surg. 2012;23:1981-4 pubmed publisher
    ..Immediate distraction appears to be an effective method of avoiding postoperative intubation and tracheostomy. ..
  27. Choudhury M, Kapoor P. Goldenhar syndrome: Cardiac anesthesiologist's perspective. Ann Card Anaesth. 2017;20:S61-S66 pubmed publisher
    b>Goldenhar syndrome or oculo-auriculo-vertebral dysplasia was defined by Goldenhar in 1952 and redefined by Grolin et al. later...
  28. Volpe P, Gentile M. Three-dimensional diagnosis of Goldenhar syndrome. Ultrasound Obstet Gynecol. 2004;24:798-800 pubmed
  29. Aydogan M, Begec Z, Erdogan M, Yucel A, Ersoy M. Airway management using the ProSeal laryngeal mask airway in a child with Goldenhar syndrome. Eur Rev Med Pharmacol Sci. 2012;16:559-61 pubmed
    Children with congenital anomalies such as Goldenhar syndrome affecting the airway can be a problem for the anaesthesiologist...
  30. Baschek V, Steinert W, Hildebrant L. [External ear duplication, a rare branchial arch abnormality]. Laryngorhinootologie. 2006;85:861 pubmed
  31. Qian J, Li Z, Liu T, Zhou X, Zhang Q. Auricular Reconstruction in Hemifacial Microsomia with an Expanded Two-Flap Method. Plast Reconstr Surg. 2017;139:1200-1209 pubmed publisher
    ..9 percent) had an unsatisfactory outcome. Auricular reconstruction using an expanded two-flap method in hemifacial microsomia is safe and effective, with satisfying middle-term results. Therapeutic, IV. ..
  32. Jin L, Hao S, Fu Y, Zhang T, Wang Z. Clinical analysis based on 208 patients with microtia (especially reviewed oculo-auriculo-vertebral spectrum, hearing test, CT scan). Turk J Pediatr. 2010;52:582-7 pubmed
    ..05); and that there was a male predominance, with the right side more likely to be affected. ..
  33. Castori M, Brancati F, Rinaldi R, Adami L, Mingarelli R, Grammatico P, et al. Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). Am J Med Genet A. 2006;140:1573-9 pubmed
    ..In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition. ..
  34. Ozdemir O, Arda K, Turhan H, Tosun O. Goldenhar's Syndrome. Asian Cardiovasc Thorac Ann. 2002;10:267-9 pubmed
    ..Investigations confirmed the diagnosis of a congenital disease, Goldenhar's syndrome, with the rare associations of polydactyly and probable autosomal dominant inheritance. ..
  35. Guerrero Domínguez R, López Herrera Rodríguez D, Benítez Linero I, Ontanilla A. Anesthetic management for surgery of esophagus atresia in a newborn with Goldenhar's syndrome. Braz J Anesthesiol. 2015;65:298-301 pubmed publisher
    ..Intubation with fibrobronchoscope distal to the fistula deals with the management of a probably difficult airway and limits the passage of air to the esophagus through the fistula. ..
  36. Cekmez F, Ince E, Coban A, Yildirim S, Bulut E, Kayserili H. Goldenhar syndrome: a new case expanding the phenotype by costal agenesis and pulmonary hypoplasia. Eur Rev Med Pharmacol Sci. 2012;16:1307-8 pubmed
  37. Ng Y, Hu J, Su P, Chen J, Yang M, Chen S. Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case. Acta Paediatr Taiwan. 2006;47:142-5 pubmed
    b>Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is an uncommon condition, characterized by a combination of anomalies: epibulbar dermoids or lipodermoids, preauricular appendices, malformation of the ears, hemifacial ..
  38. Rosa R, Dall agnol L, Zen P, Pereira V, Graziadio C, Paskulin G. [Oculo-auriculo-vertebral spectrum and cardiac malformations]. Rev Assoc Med Bras (1992). 2010;56:62-6 pubmed
    ..Congenital heart defects also represent the main cause of death of these subjects. Thus, a cardiac evaluation should always be performed in these patients, especially at an early age. ..
  39. Guven M, Ceylaner G, Ceylaner S, Uzel M, Coskun A. Prenatal diagnosis of a case probably with Oral-Facial-Digital Syndrome--Gabrielli type. Genet Couns. 2009;20:167-72 pubmed
    ..On the other hand, it is hard to differentiate this clinical picture from Goldenhar syndrome (Oculo-auriculo-vertebral spectrum), and oculo-auriculo-fronto-nasal syndrome because of many overlapping ..
  40. Kaymak C, Gulhan Y, Ozcan A, Baltaci B, Unal N, Safak M, et al. Anaesthetic approach in a case of Goldenhar's syndrome. Eur J Anaesthesiol. 2002;19:836-8 pubmed
  41. Denadai R, Raposo Amaral C, Buzzo C, Raposo Amaral C. Isolated Autologous Free Fat Grafting for Management of Facial Contour Asymmetry in a Subset of Growing Patients With Craniofacial Microsomia. Ann Plast Surg. 2016;76:288-94 pubmed publisher
    ..A significant improvement of facial symmetry was obtained in this subset of growing CFM patients using only isolated free fat grafting. ..
  42. Rosa R, Zen P, Flores J, Golendziner E, Pilla C, Roman T, et al. [Oculo-auriculo-vertebral spectrum in patients with congenital heart defects]. Arq Bras Cardiol. 2010;95:436-9 pubmed
    ..Future prospective studies with well defined clinical criteria and subjects with mild and major defects will be important to assess the role of OAVS in the general population of subjects with heart malformations. ..
  43. Tsirikos A, McMaster M. Goldenhar-associated conditions (hemifacial microsomia) and congenital deformities of the spine. Spine (Phila Pa 1976). 2006;31:E400-7 pubmed
    ..Failures of vertebral segmentation were the most frequent abnormality in the cervical spine, whereas failures of vertebral formation most commonly occurred in the thoracic or thoracolumbar spine. ..
  44. Al Mulhim A, Kamal H. Ambiguous genitalia in neonates: a 4-year prospective study in a localized area. East Mediterr Health J. 2010;16:214-7 pubmed
    ..The karyotype was undetermined in 6 natients. Positive family history of ambiguous genitalia was noted in 4 patients...
  45. Beriaghi S, Myers S, Jensen S, Kaimal S, Chan C, Schaefer G. Cleft lip and palate: association with other congenital malformations. J Clin Pediatr Dent. 2009;33:207-10 pubmed
    ..9% were non-chromosomal/syndromic. Recognition of the spectrum of congenital malformations, associated with orofacial clefting, is essential for further diagnostic testing and in some cases genetic counseling. ..
  46. Ozlu O, Simsek S, Alaçakir H, Yigitkanli K. Goldenhar syndrome and intubation with the fiberoptic broncoscope. Paediatr Anaesth. 2008;18:793-4 pubmed publisher
  47. Choong Y, Watts P, Little E, Beck L. Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?. J AAPOS. 2003;7:226-7 pubmed
    We report a full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome...
  48. Glaser T, Rauen K, Jeng L, de Alba Campomanes A. Lipodermoid in a patient with Emanuel syndrome. J AAPOS. 2013;17:211-3 pubmed publisher
    We report an 8-month-old boy with Emanuel syndrome who also had the clinical features of Goldenhar syndrome. At birth, he was observed to have bilateral microtia with multiple auricular pits, retrognathia, and a unilateral lipodermoid...
  49. Ala Mello S, Siggberg L, Knuutila S, von Koskull H, Taskinen M, Peippo M. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am J Med Genet A. 2008;146A:2490-4 pubmed publisher
    The oculoauriculovertebral anomaly (OAV) or Goldenhar syndrome is a malformation complex that has been described in several chromosomal rearrangements. Among them a deletion of the terminal 5p has recurred in seven previous patients...
  50. Cascone P, Gennaro P, Spuntarelli G, Iannetti G. Mandibular distraction: evolution of treatment protocols in hemifacial microsomy. J Craniofac Surg. 2005;16:563-71 pubmed
    ..In our opinion, guidelines in the indications for distraction are mandatory to select the procedure best suited to the pathologic situation of each individual patient...
  51. Bekibele C, Ademola S, Amanor Boadu S, Akang E, Ojemakinde K. Goldenhar syndrome: a case report and literature review. West Afr J Med. 2005;24:77-80 pubmed
    The case of a 24-year-old female Nigerian with features of Goldenhar syndrome is presented and the challenges of management especially with reference to reconstructive facial surgery and general anaesthesia are discussed.
  52. Choi S, Kang D, Hwang C. Adult patient with hemifacial microsomia treated with combined orthodontics and distraction osteogenesis. Am J Orthod Dentofacial Orthop. 2014;145:72-84 pubmed publisher
    ..Postoperative orthodontic treatment achieved tooth alignment and closure of the posterior open bite. The total treatment period was 27 months. These therapeutic treatments improved the patient's facial appearance. ..
  53. Garcia de Paula e Silva F, de Carvalho F, Díaz Serrano K, de Freitas A, Borsatto M, de Queiroz A. Solitary median maxillary central incisor in association with Goldenhar's syndrome: a case report. Spec Care Dentist. 2007;27:105-7 pubmed
    ..In this article, the authors report a case of Goldenhar's syndrome in a 10-year-old child who presented with the classical signs of this condition and a solitary median maxillary central incisor (SMMCI)...
  54. Wong T, Liu J, Fang J, Wu T, Tu Y. Use of the matching optimal symmetry plane method in planning surgical correction of facial asymmetry--a preliminary report of 20 patients. J Oral Maxillofac Surg. 2014;72:1180.e1-13 pubmed publisher
    ..The purpose of the present study was to introduce a new method of planning surgical correction of facial asymmetry using the OSPs as guides and test its effectiveness...
  55. Lim A, Fan K, Allam K, Wan D, Tabit C, Liao E, et al. Autologous fat transplantation in the craniofacial patient: the UCLA experience. J Craniofac Surg. 2012;23:1061-6 pubmed publisher
    ..Based on the UCLA experience, the durability of facial asymmetry and contour correction with fat transplantation is attainable in the craniofacial patient but may also require concomitant skeletal correction in the most severe cases...
  56. Ahmed Z, Alalami A, Haupert M, Rajan S, Durgham N, Zestos M. Airway management for rigid bronchoscopy via a freshly performed tracheostomy in a child with Goldenhar syndrome. J Clin Anesth. 2012;24:234-7 pubmed publisher
    A case of tooth aspiration in a 6 year old boy with Goldenhar syndrome and known difficult intubation is presented. A fresh tracheostomy was performed after a failed fiberoptic intubation and dental aspiration...
  57. Sesenna E, Magri A, Magnani C, Brevi B, Anghinoni M. Mandibular distraction in neonates: indications, technique, results. Ital J Pediatr. 2012;38:7 pubmed publisher
    ..In one case, the patient with Goldenhar's Syndrome, the procedure was repeated...
  58. Furtado L, Putnam A, Viskochil D, Lowichik A, Erickson L, Dries D, et al. Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomaly. Fetal Pediatr Pathol. 2011;30:397-404 pubmed publisher
    ..We report the pathologic findings in a 5-month-old boy with GA, tracheal stenosis, and left unilateral sclerocornea. To the best of our knowledge this is the first description of sclerocornea in a patient with GA...
  59. Sun Z, Sun L, Zhang Z, Ma X. Congenital salivary fistula of an accessory parotid gland in Goldenhar syndrome. J Laryngol Otol. 2012;126:103-7 pubmed publisher
    We report two cases of congenital salivary fistula of an accessory parotid gland, and we discuss its occurrence in Goldenhar syndrome.
  60. Miller M, Strömland K, Ventura L, Johansson M, Bandim J, Gillberg C. Autism with ophthalmologic malformations: the plot thickens. Trans Am Ophthalmol Soc. 2004;102:107-20; discussion 120-1 pubmed
    ..with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study.
  61. Gabrielli O, Bonifazi V, Offidani A, Cellini A, Coppa G, Giorgi P. Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?. Minerva Pediatr. 1993;45:459-62 pubmed
    ..The patient, a 4-year-old female shows facial asymmetry, preauricular tags, anterior displacement of the anus and rib anomalies. Some of these clinical signs are present both in the Goldenhar syndrome and in the Townes-Brocks syndrome.
  62. Ghi T, Contro E, Carletti A, D Emidio L, Cera E, Morandi R, et al. Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye. Prenat Diagn. 2008;28:362-3 pubmed publisher
  63. Van Lierde K, Van Cauwenberge P, Stevens I, Dhooge I. Language, articulation, voice and resonance characteristics in 4 children with Goldenhar syndrome: a pilot study. Folia Phoniatr Logop. 2004;56:131-43 pubmed
    ..this study was to describe the language, articulation, voice and resonance characteristics in children with Goldenhar syndrome. The 4 Dutch-speaking subjects were 2 boys (age 4.5 and 10.2 years) and 2 girls (aged 5.0 and 5...
  64. Huang X, Li X, Tan C, Xiao L, Jiang H, Zhang S, et al. Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrum. Tohoku J Exp Med. 2010;222:311-8 pubmed
  65. Ono S, Takeda K, Nishiyama T, Hanaoka K. [Endotracheal intubation with a lighted stylet in a patient with difficult airway from the first and second brancheal arch syndrome]. Masui. 2001;50:1239-41 pubmed
    ..The lightwand stylet is simple and inexpensive and it is useful for tracheal intubation in patients with difficult airway from the first and second brancheal arch syndrome...
  66. Huang X, Xiao L, Li X, Xie Y, Jiang H, Tan C, et al. Two neighboring microdeletions of 5q13.2 in a child with oculo-auriculo-vertebral spectrum. Eur J Med Genet. 2010;53:153-8 pubmed publisher
    ..Haploinsufficiency of these genes may be contributing to the phenotype in this patient. To our knowledge, there are no previous reports of this 5q13.2 deletion in a patient with oculo-auriculo-vertebral spectrum...
  67. Altintas F, Cakmakkaya O. General anesthesia for a child with Goldenhar syndrome. Paediatr Anaesth. 2005;15:529-30 pubmed
  68. Wan D, Taub P, Allam K, Perry A, Tabit C, Kawamoto H, et al. Distraction osteogenesis of costocartilaginous rib grafts and treatment algorithm for severely hypoplastic mandibles. Plast Reconstr Surg. 2011;127:2005-13 pubmed publisher
    ..Autogenous costocartilaginous rib graft and distraction osteogenesis are the most important techniques used, but long-term results need to be looked at to determine optimal management...
  69. Santos D, Miyazaki O, Cavalcanti M. Clinical-embryological and radiological correlations of oculo-auriculo-vertebral spectrum using 3D-CT. Dentomaxillofac Radiol. 2003;32:8-14 pubmed
    The purpose of this paper is to present a variety of imaging findings of oculo-auriculo-vertebral spectrum (Goldenhar syndrome) using three-dimensional reconstructed images from computed tomography (3D-CT), associating clinical and ..
  70. Geels L, Kieffer J, Hoogstraten J, Prahl Andersen B. Oral health-related quality of life of children with craniofacial conditions. Cleft Palate Craniofac J. 2008;45:461-7 pubmed publisher
    ..The internal consistency and the predictive validity of the COHIP for self-reported general health were examined...
  71. Stringer M, Tovar J, McKiernan P, Tanner S. Portal vein cavernoma associated with goldenhar syndrome. J Pediatr Gastroenterol Nutr. 2005;41:368-70 pubmed
  72. Güzelmansur I, Ceylaner G, Ceylaner S, Ceylan N, Daplan T. Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography. Genet Couns. 2013;24:319-25 pubmed
    Oculoauriculo-vertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, and mandible) and spinal anomalies...
  73. Culnane T, Hullett B, Farrell T. Pitfalls in pediatric tracheostomy: a case report. Paediatr Anaesth. 2006;16:1281-4 pubmed
    Tracheostomy is required in approximately 22% of children with Goldenhar syndrome because of upper airway obstruction. We report a case of problematic tracheostomy placement in a 24-week-old ex-premature infant with Goldenhar syndrome...
  74. Bisdas S, Lenarz M, Lenarz T, Becker H. Inner ear abnormalities in patients with Goldenhar syndrome. Otol Neurotol. 2005;26:398-404 pubmed
    The objective of this study is to investigate the inner ear malformations in patients with Goldenhar syndrome and to hypothesize the potential embryopathogenesis of these malformations.
  75. Beck A, Hudgins L, Hoyme H. Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?. Am J Med Genet A. 2005;134:359-62 pubmed
  76. Hirata M, Miwa T, Ono K, Namatame R, Hiroki K. [Analysis of difficult tracheal intubation in patients with first and second brachial arch syndrome]. Masui. 2001;50:986-90 pubmed
    ..But in all the 3 patients with the fusion of cervical spines, intubation was difficult. Therefore, we must perform radiographic assessment of the fusion of the cervical spine...
  77. Kaji J, Higashi M, Sakaguchi Y, Maki J, Kai T, Yamaura K, et al. [Fiberoptic intubation using two tracheal tubes for a child with Goldenhar syndrome]. Masui. 2010;59:1526-8 pubmed
    b>Goldenhar syndrome is associated with difficult airway due to the characteristic craniofacial anomalies such as hypoplasia of the mandible and molar bones...
  78. Healey D, Letts M, Jarvis J. Cervical spine instability in children with Goldenhar's syndrome. Can J Surg. 2002;45:341-4 pubmed
    ..To study the vertebral involvement of the cervical spine, in particular the stability of C1-C2, in children with proven Goldenhar's syndrome...
  79. Wang R, Martinez Frias M, Graham J. Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. J Pediatr. 2002;141:611-7 pubmed
    ..To determine if infants of diabetic mothers (IDM) are at increased risk for dysplastic ears and the oculoauriculo-vertebral spectrum (OAVS)...
  80. Pinheiro A, Araújo L, Oliveira S, Sampaio M, Freitas A. Goldenhar's syndrome--case report. Braz Dent J. 2003;14:67-70 pubmed
    ..This work reports a case of Goldenhar's syndrome in an 11-year-old female, who presented all classical signs of this rare condition..
  81. Villanueva O, Atkinson D, Lambert S. Trigeminal nerve hypoplasia and aplasia in children with goldenhar syndrome and corneal hypoesthesia. J AAPOS. 2005;9:202-4 pubmed
  82. Pandey P, Shroff D, Kapoor S, Kaur N, Srivastava N, Jain P, et al. Bilateral incyclotorsion, absent facial nerve, and anotia: fellow travelers in Möbius sequence or oculoauriculovertebral spectrum?. J AAPOS. 2007;11:310-2 pubmed
    ..The differential diagnosis includes Möbius sequence, oculoauriculovertebral spectrum, and a congenital cranial dysinnervation disorder...
  83. Johansson M, Billstedt E, Danielsson S, Strömland K, Miller M, Granström G, et al. Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum. Dev Med Child Neurol. 2007;49:280-8 pubmed
    ..Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV...
  84. Westermark A, Heden P, Aagaard E, Cornelius C. The use of TMJ Concepts prostheses to reconstruct patients with major temporomandibular joint and mandibular defects. Int J Oral Maxillofac Surg. 2011;40:487-96 pubmed publisher
    ..The authors' clinical experience with these cases suggests that a customized prosthesis combined with TMJ reconstruction can be a reliable treatment alternative for bridging complex, major maxillo-mandibular defects...
  85. Tillman O, Kaiser H, Killer H. Pseudotumor cerebri in a patient with Goldenhar's and Duane's syndromes. Ophthalmologica. 2002;216:296-9 pubmed
    ..Papilledema resolved over the next 2 months. To the best of our knowledge, this is the first case of Goldenhar's syndrome associated with pseudotumor cerebri...