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Oculo-Auriculo-Vertebral Spectrum/Goldenhar Syndrome

  • Background:
    • Goldenhar syndrome, part of the oculo-auriculo-vertebral spectrum, is a rare developmental disorder, first described in 1952 by Swiss ophthalmologist Maurice Goldenhar and then renamed by Gorlin in 1963, with inclusion of vertebral anomalies.
    • It is characterized by a combination of facial and ocular anomalies, auricular appendices, and malformations of the ears and vertebrae.
    • The incidence has been reported to be between 1:35,000 to 1:56,000, with male predominance (male-to-female ratio of 3:2).
    • Exact etiology remains unknown.
    • This spectrum of malformations involves structures arising from the first and second branchial arches, first pharyngeal pouch, first branchial cleft, and primordia of the temporal bone. 
       
  • Key Diagnostic Features:
    • Ocular anomalies: microphthalmia and anophthalmia;  epibulbar dermoid or lipodermoid (mostly bilateral); colobomas; cataracts, astigmatism, antimongoloid obliquity of palpebral fissures and blepharophimosis
    • Auricular malformations: preauricular skin tags or blind fistulas; microtia; other external ear anomalies such as dysplasias, asymmetries, aplasia and atresia of the external meatus; middle and internal ear anomalies
    • Craniofacial defects: unilateral facial hypoplasia; prominent forehead; hypoplasia of the zygomatic arch; maxillary and mandibular hypoplasia and unilateral macrostomia (lateral facial cleft)
    • Neck anomalies: branchial cartilage; branchial fistula; webbing; short neck and abnormalities of sternocleidomastoid muscle
    • Vertebral malformations: atlas occipitalization; synostosis; hemivertebrae; fused vertebrae; scoliosis; and bifid spine
    • Extremity defects (hands and fingers): clubbing; polydactyly; clinodactyly; and single palmar crease
    • These abnormalities have been found to be unilateral in 85% of patients and bilateral in 10–33% of patients.
    • Other systemic features are found in about 50% of patients; these include cardiovascular anomalies, cleft lip and palate, rib abnormalities, and urogenital and gastrointestinal system malformations. Associations with Turner syndrome and glaucoma were rarely reported.
    • Recently, it has been described that the abnormalities of this spectrum might encompass structures derived from the neighboring neural crests, such as the cranial nerves, with frequently reported involvement of the brain, internal carotid artery, inner ear, internal facial nerve bony canal, internal acoustic canal, and oval window.
    • Additionally, submandibular salivary gland and parotid gland hypoplasias were also described.
       
  • Differential Diagnoses:  
    • Treacher Collins syndrome: Autosomal dominant congenital disorder characterized by craniofacial deformities, such as downward-slanting eyes, micrognathia, macrostomia, and microtia. Bilateral involvement of facial structures is typically present. 
    • Wolf-Hirschhorn syndrome: Characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Generally, it is associated with other CNS malformations, such as corpus callosum agenesis.
    • Townes-Brocks syndrome: Usually associated with anal malformations (such as stenosis or imperforation) and mental retardation.
    • Delleman syndrome: Includes orbital cysts, microphthalmia or anophthalmia, focal skin defects, and CNS cysts and/or hydrocephalous.
    • Hallermann-Streiff syndrome (mandibulo-oculo-dyscephaly): Characterized by dyscephalia and birdlike facies, congenital cataracts, bilateral microphthalmia, small mouth, and irregular dentition.
    • Seckel syndrome: Has extreme microcephaly, short stature, and beak nose. Bilateral involvement is usual.
       
  • Treatment:
    • Reconstructive surgery is usually necessary in these patients.
    • Those with mandibular hypoplasia can be submitted to reconstructions using rib bone grafts, and an underdeveloped maxilla can be lengthened by bone distraction and osteogenesis.
    • Reconstructive surgeries of the external ear may be performed at the age of 6 to 8 years.
    • In patients with milder involvements, reconstructive jaw surgeries can be done during adolescence.
    • Children with this syndrome have an increased risk for psychosocial difficulties, so support to the patients and families is recommended.
    • Prognosis is generally good in otherwise uncomplicated cases without any systemic involvement; however, some severe cases may require several surgical interventions as early as from birth.
    • Renal and heart ultrasounds may be recommended due to the increased risk for birth defects in these areas.
       
February 1, 2018

An 8-year-old boy with normal psychomotor development, right hemifacial and mandibular hypoplasia, right-sided microtia, and associated systemic malformations, including esophageal atresia (submitted to surgery during first day of life), ventricular septal defect, urogenital malformations (double left ureter) and thoracic asymmetry with fusion of D7 and D8 vertebrae

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