Bookmarks
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
- Oculo-auriculo-vertebral spectrum (OAVS)
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
- Microtia (small external ear) or hemifacial microsomia + ear malformations suggested as minimal criteria
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
Loading...
Related Differential Diagnoses
Loading...
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
- Oculo-auriculo-vertebral spectrum (OAVS)
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
- Microtia (small external ear) or hemifacial microsomia + ear malformations suggested as minimal criteria
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
