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Goldenhar Syndrome

Goldenhar Syndrome. Presented by Lori Kingsbury & Jennifer Klundt DCOM 732 Craniofacial Anomalies Summer 2010. Goldenhar Syndrome. AKA Oculo - auriculo -vertebral dysplasia (OAV) First described in 1952 by Maurice Goldenhar

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Goldenhar Syndrome

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  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 (epibulbardermoid 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 • Vertibralanomolies including absence of vertibrae, hemivertebrae, fused ribs, kyphosis & scoliosis.

  9. Facial Features

  10. Physical Signs/Symptoms • Unilateral or bilateral Hemifacialmicrosomia (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

  15. Treatment • Treatment of hearing loss or deafness • Speech therapy • Managing feeding problems • Orthodontics • Treating associated problems like heart or kidney issues

  16. Prognosis VERY GOOD Normal Lifespan Normal Intelligence

  17. Videos • http://www.youtube.com/watch?v=YctDsaVLLLY&feature=youtube_gdata • http://www.youtube.com/watch?v=hkSyKkq9fms • http://www.youtube.com/watch?v=zWz06w4Cerl

  18. References • http://www.ccakids.com/Syndrome/HemifacialMicrosomia.pdf • http://www.healthline.com/galecontent/goldenhar-syndrome • http://www.orpha.net/consor/cgi-bin/oc_Exp.php?Lng=GB&Expert=374 • http://righthealth.com/topic/Goldenhar_Syndromes

  19. Multiple Choice Exam Questions Question #1 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 Question #2 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 Question #3 Which of the following is NOT a treatment associated withGoldenhar Syndrome? • A. Plastic Surgery • B. Aural Rehabilitation • C. Behavior Modifications • D. Managing Feeding Issues

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