Goldenhar Syndrome

Patient Evaluation

• Thorough clinical examination and radiographic survey.
• Facial skeleton is assessed in coronal, saggital, and transverse planes using frontal, and lateral cephalometric radiographs, a panoramic x-ray, and submental vertex radiograph.
• Tomograms of the TMJ, and 3-D CT scan are helpful in quantifying the defects.
• Soft tissue analysis is performed in all three planes by systematic physical examination and using facial photographs.
• Facial photographs, with frontal views of patient at rest, in repose, and full smile together with oblique and submental views.
• Frontal view with the patient biting on wooden tongue blade to assess the magnitude of occlusal canting.
• Models mounted on semiadjustable articulator.
• Intraoral photographs of the occlusion and maxillary and mandibular arches.
• CT scans are helpful in quantifying the soft tissue deficits.

Treatment

• The treatment requires a multidisciplinary team approach that evaluate all organ systems for anomalies.
• Multiple-organ involvement can make anesthetic management difficult and complicate or limit the surgical correction of the deformities.
• Regardless of the skeletal type present, the end -stage deformity can be reduced by early surgical intervention to correct the mandibular malformation and allow normal maxillary growth to proceed.
• Comprehensive phased treatment plan is developed based on the patient’s age, skeletal type, physical examination, and assessment of photographs, and mounted models.

  Grade I patient in the primary or mixed dentition :

  Functional orthodontic appliance to position the affected side of the mandible inferiorly and anteriorly.

  The appliance applies tension on the muscles and soft tissues.

  This causes appositional bone growth on the affected side when the functional matrix is expanded.

  Inverted -L osteotomy or intraoral vertical osteotomy on the affected side if canting occurs.

  Grade I adult and older adolescent

  Two-jaw orthognatic surgery in conjunction with orthodontics usually required to correct the end-stage deformity.

  Lefort I osteotomy to level the occlusal plane and place the maxilla at the optimal vertical and horizontal position.

  Multiple-piece maxilla to correct transverse deficiencies may be necessary.

  BSSO required to allow asymmetric repositioning the malformed, with advancement on the affected side and setback on the normal side.

  Genioplasty to level and reposition the chin back to the midline vertically.

  Bone graft maybe indicated depending on the magnitude of the asymmetry present.

  Grade II patients in primary and mixed dentition

  Same as in Grade I patients.

  Grade II adult and young adolescents        

  Same as in Grade I patients.

  Grade III in patient with primary and mixed dentition :

  No functional appliance indicated due to the severity of the hypoplasia in the mandible and and muscles of mastication.

  Reconstruction of the glenoid fossa, condyle, ramus, and mandibular body at age 2-5 yrs with iliac crest and costochondral grafts as the midface deformity begins.

  Mandible is lengthened and rotated on the affected side to create unilateral posterior open bite.

  The surgically created open bite is maintained for 1-2 years by orthodontic appliance adjusted at regular intervals.

  This allows unrestricted maxillary vertical growth and eruption of the permanent teeth.

  Grade III adult and young adolescents

  Extensive skeletal and soft tissue reconstruction.

  Lefort I osteotomy to level occlusal canting .

  BSSO to rotate mandible in a three-dimensional planes.

  Genioplasty.

  Soft Tissue Correction                                     

  Removal of skin tags in infancy.

  A staged reconstruction of the external ear anomaly is usually accomplished at 6-7 years of age.

  Treatment of other soft tissue deficits usually postponed until facial skeleton has been completed and growth has ceased.

Case Presentation

• J.S 14 year old white female with documented Goldenhar syndrome, referred to OMFS for surgical correction of her cranio-skeletofacial deformity.
• The patient has been undergoing orthodontic treatment (4years) in preparation for the surgical correction.
• Past medical Hx. Significant for Goldenhar syndrome.
• No medications, and NKDA.
• Past surgical Hx. Significant for Tonsillectomy and Adenoidectomy, repair of rib deformity, multiple upper eyelid repairs, and repair of recto-vaginal fistula.
• No surgery attempted for correction the skeletofacaial deformity.
• No complications with previous general anesthesia experience.
• The patient evaluation included :
• Thorough history and physical examination.
• Radiographic Survey, including , panoramic radiograph, frontal, and lateral cephalometric views, C-spine series, TMJ tomograms.
• Clinical photographs.
• Models mounted on semiadjustable articulator.
• Cephalometric prediction tracing.
• Patient fits the criteria for Goldenhar syndrome due to the following :-

1) Upper eye lid abnormality (coloboma).

2) Preauricular skin tags.

3) Hypoplastic mandible.

4) Vertebral anomalies : Fused cervical spines; abnormal

ribs, sacral agenesis.

5) Recto-vaginal fistula.

Treatment

1. Harvesting Cranial bone graft, split thickness .

2. Lefort I osteotomy.

3.Bilateral inverted-L mandibular osteotomy.

4. Genioplasty.

5. Odontectomy teeth # 1, and 16.