Goldenhar Syndrome presentation

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
 Associated with anomalous
development of the first branchial
arch and second branchial arch
 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
 Environmental factors (insecticides and herbicides)
 Maternal diabetes
•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
Unique Characteristics
 Usually characterized by unilateral triad of craniofacial
microsomia, ocular dermoid cysts and spinal
Eye defects
 Ocular anomalies occur in about 50% of cases
(epibulbar dermoid and lipodermoid are most
Ear defects
 Auricular defects are reported in 65% of cases
(preauricular tags, microtia, anotia, conductive
hearing loss
Vertibral defects
 Vertibral anomolies including absence of vertibrae,
hemivertebrae, fused ribs, kyphosis & scoliosis.
Facial Features
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
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
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
Hyponasality – clefting of lip and/or palate
Swallowing problems – lack of saliva, tongue shape or
Abnormal airways
 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
 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
 Treatment of hearing loss or deafness
 Speech therapy
 Managing feeding problems
 Orthodontics
 Treating associated problems like heart or kidney
Normal Lifespan Normal Intelligence
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
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
Multiple Choice Exam Questions
Question #3
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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