Radiology Teaching Files > Case 867469

Contributed by: Children's Hospital Omaha, Radiologist, Omaha Childrens, Creighton University and UNMC, Nebraska, USA.

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Goldenhar Syndrome


Goldenhar Syndrome describes a spectrum of congenital craniofacial abnormalities of varying severity. The syndrome is named after an American family physician, Maurice Goldenhar, who first described characteristic features. The sydrome is also known as Oculoauricular verterbral dysplasia, Oculoauriculovertebral syndrome, Facioauriculovertebral anomaly syndrome and First and second branchial arch syndrome.

Goldenhar syndrome is a variant of Hemifacial Microsomia. The distinguishing characteristic of Goldenhar Syndrome is the presence of epibulbar dermoid tumors of the eye which can interfere with vision if they become large enough. The eye may be absent. Other characteristic physical abnormalities include an underdeveloped mandible as well as a flattened and underdeveloped maxilla. The tongue on the affected side may be small and the mouth on the affected side is pulled up toward the ear. The ear may be absent or only partially formed (microtia). Preauricular skin tags and/or fistula. Children may also have fusion of cervical vertebrae. The extent of these abnormalities are evaluated radiographically using a variety of imaging techniques. Various radiologis abnormalities can be seen in Goldenhar syndrome:
- hypoplasia of maxilla, mandible, and temporal bone
- vertebral anomalies
- hypoplastic ECA with altered cerebral blood flow
- lipoma of corpus callosum
- encephalocele, hydrocephalus, porencephaly, microcephaly
- agenesis of corpus callosum
- agenesis of vermis
- rib abnormalities
- pulmonary agenesis/hypoplasia
- congenitally absent portal vein

The diagnosis of Goldenhar Syndrome can be made by prenatal ultrasound if the previously described abnormalities are seen.

In addition to the physical anomalies the child may also have hearing difficulties, unilateral weakness of the affected side of the face, and abnormal dentition with the soft palate moving toward the afftected side of the face.

The exact cause of Goldenhar Syndrome is not known, although different theories have been presented. One such theory suggests that the syndrome is secondary to a prenatal vascular accident to fetal tissues involved in forming the face and ear. The severity of the disease is directly related to the timing of the vascular insult. Other theories propose an environmental link, noting an increased incidence of children with Goldenhar Syndrome in Gulf War Veterans (this theory is being investigated at the time of this writing). The vast majority of cases are sporadic.


Contributed by:
Dr. Mauricio Castillo, Chief and Program Director, Neuroradiology, UNC-CH
Dr. Philip Silberberg, Radiologist, Children's Hospital, Omaha, NE
Kyle Reynolds, B.S., Children's Hospital, Omaha, NE
Dr. Kristi Sobota, Radiology Resident, Creighton University Medical Center, Omaha, NE
Benjamin Silberberg

Diseases Database
Who named it?
Hooshang, T. and R.S. Lachman. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias, 3rd Ed. Chicago: Year Book Medical Publishers, Inc., 1990.

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Additional Details:

Case Number: 867469Last Updated: 04-27-2005
Anatomy: Face and Neck   Pathology: Congenital
Modality: CT, 3D ReconstructionExam Date: Access Level: Readable by all users
Keywords: goldenhar syndrome

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