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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
Oculo-auriculo-vertebral spectrum (OAVS)
Many now favor this as more precise term
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
Microtia (small external ear) or hemifacial microsomia + ear malformations suggested as minimal criteria
Strict definition of microtia includes absence of external auditory meatus
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
~ 50% of cases have additional cardiac, brain, pulmonary, or genitourinary abnormalities
IMAGING
MR Findings
Ultrasonographic 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
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
Beleza-Meireles A et al: Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet. 51(10):635-45, 2014
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
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
Oculo-auriculo-vertebral spectrum (OAVS)
Many now favor this as more precise term
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
Microtia (small external ear) or hemifacial microsomia + ear malformations suggested as minimal criteria
Strict definition of microtia includes absence of external auditory meatus
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
~ 50% of cases have additional cardiac, brain, pulmonary, or genitourinary abnormalities
IMAGING
MR Findings
Ultrasonographic 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
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
Beleza-Meireles A et al: Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet. 51(10):635-45, 2014
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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