Isolated hemifacial microsomia with family history of OAVS may be sufficient
Some references state diagnosis based on ≥ 2 of following findings
Abnormal ears
Hemifacial microsomia
Lateral facial cleft
Ocular abnormalities
Vertebral anomalies
OMENS acronym to assist in evaluation
~ 50% have additional CNS, cardiac, skeletal, or genitourinary abnormalities
IMAGING
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Genetics
Etiology
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Parizotto JOL et al: Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum. Orthod Craniofac Res. ePub, 2021
Renkema RW et al: Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients. Int J Oral Maxillofac Surg. 48(9):1169-76, 2019
Siebold B et al: Evaluation of prenatal diabetes mellitus and other risk factors for craniofacial microsomia. Birth Defects Res. 111(11):649-58, 2019
Ribeiro B et al: Goldenhar syndrome: a rare diagnosis with possible prenatal findings. BMJ Case Rep, 2016
Baugh AD et al: Sleep characteristics in Goldenhar syndrome. Int J Pediatr Otorhinolaryngol. 79(3):356-8, 2015
Beleza-Meireles A et al: Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients. Eur J Med Genet. 58(9):455-65, 2015
Puvabanditsin S et al: 7q21.11 Microdeletion in a neonate with Goldenhar syndrome: case report and a literature review. Cleft Palate Craniofac J.53(2):249-52, 2015
Guzelmansur I et al: Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography. Genet Couns. 24(3):319-25, 2013
Linder M et al: Intrauterine death of a child with Goldenhar syndrome: a case presentation and review of the literature. Arch Gynecol Obstet. 286(3):809-10, 2012
Herwig MC et al: Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. Pediatr Dev Pathol. 14(4):322-6, 2011
Vendramini-Pittoli S et al: Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol. 18(2):67-77, 2009
Werler MM et al: Hemifacial microsomia: from gestation to childhood. J Craniofac Surg. 20 Suppl 1:664-9, 2009
Ghi T et al: Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye. Prenat Diagn. 28(4):362-3, 2008
Castori M et al: Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). Am J Med Genet A. 140(14):1573-9, 2006
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KEY FACTS
Terminology
Imaging
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Diagnostic Checklist
TERMINOLOGY
Abbreviations
Oculo-auriculo-vertebral spectrum (OAVS)
Synonyms
Includes 3 subdivisions: Goldenhar, hemifacial microsomia, oculo-auriculo-vertebral disorder
Variable features with Goldenhar typically most severe
Facio-auriculo-vertebral syndrome
1st and 2nd arch syndrome
Definitions
Developmental disorder involving structures derived from 1st and 2nd pharyngeal arches
No consensus on minimum diagnostic criteria; many use OMENS acronym (orbit, mandible, ear, facial nerve, soft tissues) to describe
Microtia (small external ear) or hemifacial microsomia + ear malformations suggested as minimal criteria
Isolated hemifacial microsomia with family history of OAVS may be sufficient
Some references state diagnosis based on ≥ 2 of following findings
Abnormal ears
Hemifacial microsomia
Lateral facial cleft
Ocular abnormalities
Vertebral anomalies
OMENS acronym to assist in evaluation
~ 50% have additional CNS, cardiac, skeletal, or genitourinary abnormalities
IMAGING
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Genetics
Etiology
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Parizotto JOL et al: Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum. Orthod Craniofac Res. ePub, 2021
Renkema RW et al: Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients. Int J Oral Maxillofac Surg. 48(9):1169-76, 2019
Siebold B et al: Evaluation of prenatal diabetes mellitus and other risk factors for craniofacial microsomia. Birth Defects Res. 111(11):649-58, 2019
Ribeiro B et al: Goldenhar syndrome: a rare diagnosis with possible prenatal findings. BMJ Case Rep, 2016
Baugh AD et al: Sleep characteristics in Goldenhar syndrome. Int J Pediatr Otorhinolaryngol. 79(3):356-8, 2015
Beleza-Meireles A et al: Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients. Eur J Med Genet. 58(9):455-65, 2015
Puvabanditsin S et al: 7q21.11 Microdeletion in a neonate with Goldenhar syndrome: case report and a literature review. Cleft Palate Craniofac J.53(2):249-52, 2015
Guzelmansur I et al: Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography. Genet Couns. 24(3):319-25, 2013
Linder M et al: Intrauterine death of a child with Goldenhar syndrome: a case presentation and review of the literature. Arch Gynecol Obstet. 286(3):809-10, 2012
Herwig MC et al: Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. Pediatr Dev Pathol. 14(4):322-6, 2011
Vendramini-Pittoli S et al: Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol. 18(2):67-77, 2009
Werler MM et al: Hemifacial microsomia: from gestation to childhood. J Craniofac Surg. 20 Suppl 1:664-9, 2009
Ghi T et al: Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye. Prenat Diagn. 28(4):362-3, 2008
Castori M et al: Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). Am J Med Genet A. 140(14):1573-9, 2006
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