What is a Goldenhar syndrome? How do you approach to manage such case?
- Also known as (Oculo-auriculo-vertebral syndrome/dysplasia/spectrum)
- It is a wide spectrum of congenital anomalies that involves structure arising from first and second Branchial arches.
- This syndrome is characterized by incomplete development of ear nose soft palate, lip and mandible.
- This syndrome commonly involves one side of the body.
- It is a variant of Hemifacial Microsomia.
- This is the second most common facial birth defect ranking next only to cleft lip and palate.
- First describe by Goldenhar as a trial of:
- Epibulbar Choristomas
- Prearicular skin appendage
- Mandibulofacial dysostosis
To this trial Gorlin added vertebral anomalies and transverse facial clefts.
- Development of Oulo-auriculo-vertebral complex takes place during the 4 week of gestation
- Interference to blood supply to this reason (primordial stapedial artery)
- Local Haemorrhage in the area
- Impaired interaction b/w neural crest c the mesoderm of the 1st and 2nd arches
- Mutations involving MSX genes.
- Facial asymmetry: 70%, clearly manifest c/in 1st 4 years of life.
- Hypoplasia of face:
- predominantly horizontal /vertical/mixed.
- Clearly seen along the oblique line extending b/w the malformed pinna and angle of mouth.
- Right side commonly affected.
- Upper 3rd of face, zygoma and lateral portion of the maxilla are affected ,Lower portion: mandible affected more (Ramus hypoplastic)
- Orbits: Usually symmetrical, interorbital distance
- Temporomandibular joint: displaced antero-inferiorly
- Muscle of mastication: severely hypoplastic
- Skin tags b/w the malformed ear and the corner of mouth.
- Miscrostomia/cleft lip/cleft palate
- velopharyngeal insufficiency
- Dental maturation asymmetric defective 1º enamel.
- Deformity of ear
- Deformities of ear
- Epibulbar choriostomas
- Colobamas of upper eye lid:70% medial third of upper eyelid
- Impaired ocular mobility due to hypoplaisa of occulomotor nerves
- Deformity involving skull: Plagiocephaly(Frontal bone 20%)
- Occasionally cervical and rib anomalies, cardiac defects and renal abnormalities
Diagnosis of Goldenhar syndrome
- No genetic or chromosomal test to identify
- Diagnosis by HY and clinical examination
- Other tests: Hearing assessment
- X-ray spine
- USG: Renal anomalies
- Echocadiography: Heart
- Varies greatly depending on the need of individuals
- Mild case: no treatment.
- Hearing loss: Hearing aids(BAHA)
- Speech therapist
- Ophthalmological problem: corrective surgery and glasses
- Surgical intervention:
- Correction of cardiac and spinal defect
- Cosmetic surgery for facial abnormalities correction of cleft lip and palate.
Tags: Goldenhar syndrome
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