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Goldenhar Syndrome Presented by Lori Kingsbury & Jennifer Klundt

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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 Anomalies Summer 2010

2 Goldenhar Syndrome AKA Oculo-auriculo-vertebral dysplasia (OAV)
First described in 1952 by Maurice Goldenhar Associated with anomalous development of the first branchial arch and second branchial arch

3 Etiologies Etiology 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 sporadic 1-2% of cases report autosomal dominant transmission A 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 defects Ocular anomalies occur in about 50% of cases (epibulbar dermoid and lipodermoid are most common)

7 Ear defects Auricular defects are reported in 65% of cases (preauricular tags, microtia, anotia, conductive hearing loss

8 Vertibral defects Vertibral anomolies including absence of vertibrae, hemivertebrae, fused ribs, kyphosis & scoliosis.

9 Facial Features

10 Physical Signs/Symptoms
Unilateral or bilateral Hemifacial microsomia (HFM) Microtia; chin may be closer to the affected ear Micrognathia Facial clefting Cleft lip/palate Hearing loss Missing eye or benign growths of the eye

11 Other Health Issues Heart, 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 Variable Language problems – associated with hearing loss Speech problems –tongue shape, jaw shape and mobility, weakness or difficulty moving side that is smaller Hyponasality – clefting of lip and/or palate Swallowing problems – lack of saliva, tongue shape or use Abnormal airways

13 Diagnosis No Genetic Test Through identification of physical anomalies
Appearance, Skeletal Formations, Hearing Deficits Professionals 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 cheeks Soft tissue may be added to face 3 to 4 operations to rebuild ear Can 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 problems Orthodontics Treating associated problems like heart or kidney issues

16 Normal Lifespan Normal Intelligence
Prognosis VERY GOOD Normal Lifespan Normal Intelligence 15% show a developmental delay or learning difficulties related to the language problems that stem form the hearing loss, but most demonstrate normal intelligence

17 Videos

18 References

19 Multiple Choice Exam Questions
Goldenhar Syndrome is characterized by: A. Craniofacial microsomia B. Ocular dermoid cysts C. Spinal abnormalities D. All of the above

20 Multiple Choice Exam Questions
Which of the following is NOT a characteristic of Goldenhar Syndrome? A. Microtia B. Facial Clefting C. Macrognathia D. Hearing loss

21 Multiple Choice Exam Questions
Which of the following is NOT a treatment associated with Goldenhar Syndrome? A. Plastic Surgery B. Aural Rehabilitation C. Behavior Modifications D. Managing Feeding Issues

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