Presentation on theme: "Goldenhar Syndrome Presented by Lori Kingsbury & Jennifer Klundt"— Presentation transcript:
1 Goldenhar Syndrome Presented by Lori Kingsbury & Jennifer Klundt DCOM 732 Craniofacial AnomaliesSummer 2010
2 Goldenhar Syndrome AKA Oculo-auriculo-vertebral dysplasia (OAV) First described in 1952 by Maurice GoldenharAssociated with anomalous development of the first branchial arch and second branchial arch
3 EtiologiesEtiology is unclear; one possible etiology suggested is that there seems to be a deficiency in mesodermal formation or defective interaction between neural crest and the mesoderm.Some factors are believed to be related to the development of the disease. These may include:Drug ingestion (cocaine, thalidomide, retinoic acid and tamoxifen)Environmental factors (insecticides and herbicides)Maternal diabetes
4 Prevalence 1 in 5,000 – 25,000 live births Male prevalence Most cases are sporadic1-2% of cases report autosomal dominant transmissionA few families consistent with autosomal recessive have been reported
5 Unique Characteristics Usually characterized by unilateral triad of craniofacial microsomia, ocular dermoid cysts and spinal abnormalities
6 Eye defectsOcular anomalies occur in about 50% of cases (epibulbar dermoid and lipodermoid are most common)
7 Ear defectsAuricular defects are reported in 65% of cases (preauricular tags, microtia, anotia, conductive hearing loss
8 Vertibral defectsVertibral anomolies including absence of vertibrae, hemivertebrae, fused ribs, kyphosis & scoliosis.
10 Physical Signs/Symptoms Unilateral or bilateral Hemifacial microsomia (HFM)Microtia; chin may be closer to the affected earMicrognathiaFacial cleftingCleft lip/palateHearing lossMissing eye or benign growths of the eye
11 Other Health IssuesHeart, kidney, and lung problems are also common in individuals with Goldenhar syndrome. These typically involve one side of the organ being underdeveloped or missing.
12 Speech/Language Characteristics Highly VariableLanguage problems – associated with hearing lossSpeech problems –tongue shape, jaw shape and mobility, weakness or difficulty moving side that is smallerHyponasality – clefting of lip and/or palateSwallowing problems – lack of saliva, tongue shape or useAbnormal airways
13 Diagnosis No Genetic Test Through identification of physical anomalies Appearance, Skeletal Formations, Hearing DeficitsProfessionals in pediatric medicine, radiology, ophthalmology, otolaryngology, odontology, and neurology contribute to the diagnosis
14 Treatment Lowering of jaw on affected side Lengthening jaw Addition of bone to build up cheeksSoft tissue may be added to face3 to 4 operations to rebuild earCan be very complex because there are so many aspects to deal with. Again it depends on the severity of the condition.
15 Treatment Treatment of hearing loss or deafness Speech therapy Managing feeding problemsOrthodonticsTreating associated problems like heart or kidney issues
16 Normal Lifespan Normal Intelligence PrognosisVERY GOODNormal Lifespan Normal Intelligence15% show a developmental delay or learning difficulties related to the language problems that stem form the hearing loss, but most demonstrate normal intelligence
19 Multiple Choice Exam Questions Goldenhar Syndrome is characterized by:A. Craniofacial microsomiaB. Ocular dermoid cystsC. Spinal abnormalitiesD. All of the above
20 Multiple Choice Exam Questions Which of the following is NOT a characteristic of Goldenhar Syndrome?A. MicrotiaB. Facial CleftingC. MacrognathiaD. Hearing loss
21 Multiple Choice Exam Questions Which of the following is NOT a treatment associated with Goldenhar Syndrome?A. Plastic SurgeryB. Aural RehabilitationC. Behavior ModificationsD. Managing Feeding Issues