Service de Gynécologie-Obstétrique. CHR Félix Guyon - La Reunion, France.

Definition:

Goldenhar Syndrome is a rare congenital birth defect, characterized by abnormal development of the ear, nose, soft palate and mandible.  Goldenhar Syndrome includes ocular anomaly, unilateral or bilateral microtia, mandibular hypoplasia, hemifacial microsomia, oral cavity’s anomaly, abnormalities of respiratory, genito-urinary, cardiovascular, neurological and skeletal systems. Retarded mental development is usually associated.

Synonym:

Goldenhar Syndrome is also known as Oculo-Auriculo-Vertebral syndrome (OAVS), or Oculo-Auriculo-Vertebral dysplasia or hemifacial microsomia, or First and Second branchial arches syndrome.

History:

Pr Maurice Goldenhar (1924-2001) documented this syndrome on 1952.

Prevalence:

Prevalence of Goldenhar Syndrome is approximately from 1/5600 to 1/20,000 births. But Goldenhar Syndrome affects 1/50.000 live births in UK.

Goldenhar Syndrome more often affects on the right side of the face, male more than female. Right-side to left-side face = 3:2, Male to female = 3:2

Etiology:

The cause of Goldenhar Syndrome is mostly unknown. There is probably an abnormal first or second branchial arch development. Although most cases of Goldenhar Syndrome occur sporadically, autosomal recessive and dominant inheritance are described in literature. Goldenhar Syndrome is thought to be multifactorial, although there is a genetic or environmental component. An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested, but there was no statistically significant differences.⁴

Pathogenesis:

Goldenhar Syndrome is a birth defect with a highly variable phenotype, involving first and second branchial arch derivatives.

Sonographic findings:

During prenatal ultrasound examination, Goldenhar Syndrome should be suspected when a unilateral cleft lip or palate is associated with other facial anomalies, such as:  

• Facial asymmetry  
• Unilateral orbital anomalies 
• Ear abnormalities: with appendix or pre-auricular tag (common sign)
• Retrognathia / micrognathia (common sign)

Implications for targeted examinations:

Microtia with preauricualr skin tag should be suspective of Godenhar syndrome

Differential diagnosis:  

• Franschetti syndrome or Treacher – Collins syndrome: (mandibulofacial dysostosis) presents severe micrognathia with abnormal auricles. Cleft palate and mandibular hypoplasia are present, but without agnathia.  
• Nager syndrome or acro-facial dysostosis: including radial limb defect, hypoplasic thumbs and hypoplasia of the radius. 
• Townes-Brocks syndrome: present with other findings such as lop ears, imperforate anus, hypoplastic kidney, ventricular septal defect, limb anomalies (autosomal dominant  inheritance).       
• Kaufman syndrome: Oculo-cerebro-facial syndrome.

The preauricular tags can be associated with several genetic conditions such as: 

• Oculoauriculovertebral dysplasia 
• Chromosome arm 11q duplication syndrome 
• Chromosome arm 4p deletion syndrome
• Chromosome arm 5p deletion syndrome, and 

To confirm Goldenhar Syndrome, some authors suggest a frontal 3D rendering to assess for facial hemi-microsomia and preauricular tags.

Associated anomalies:

Other extra-facial abnormalities were reported in 50% of cases, sometimes associated with cardiac abnormalities, spinal and central nervous system. Other signs :

•  Anomalies of the portal vein
•  Partial absence of the mandible / hypoplasia (very common sign)
•  Epibulbar dermoid  cysts  (very common  sign)
•  Narrow face (very common  sign)
•  Macrostomia / wide mouth (very common  sign)
•  External auditory canal atresia / absent (very common  sign)
•  Pointed chin (very common  sign)
•  Cleft palate (very common  sign)
•  Hearing loss / conduction (very common  sign)
•  Vertebrae: abnormal dimension / form (very common  sign)
•  Ear anomalies / deafness (common  sign)
•  Astigmatism (common  sign)
•  Eyelid coloboma (common  sign)
• Microphthalmia (common  sign) 
•  Facial paralysis (common  sign)
•  Cleft lip and palate (frequent sign)
•  Zygoma  / malar  hypoplasia  (frequent sign)

Mental retardation is frequent, but not systematic. It affects in 10% cases with  risk of obstructive sleep apnea.

Prognosis:  In addition to the physical characteristics common to Goldenhar Syndrome, the child may have the following problems:

• Hearing problems 
• Weakness in moving the side of the face that is smaller 
• Dental problems - the soft palate may move to the unaffected side of the face 
• Tongue may be smaller on the affected side of the face  
• Fusion of the bones of the neck  
• Deglutition problem 
• Facial asymmetry with facial paralysis 
• Ear abnormalities (external ear)
• Mandibula hypoplasia
• Microphtalmia : eyelid colobome
• Cardiopathy 

The height and weight of the child affected by a Goldenhar Syndrome are usually normal. The psychomotor development of affected individuals is usually normal, although the delay of acquisition in main stages of development is detected in approximately 10% of patients.

Recurrence risk:

If the couple had the previous child with Goldenhar Syndrome, the probability of having another child with Goldenhar would be less than 1%.  Most cases of Goldenhar Syndrome are of sporadic occurrence and of rare recurrence risk (2-3%). Researches in families’ transmission suggested an autosomal dominant  inheritance. The child has about a 3% chance of passing it on to his or her children.

Management:

The preauricular tags can be associated with several genetic conditions. Esthetic treatment is usually limited to affected organs.

References:

1. Volpe P., Gentile M. Three-dimensional diagnosis of Goldenhar syndrome. Ultrasound Obstet gynecol 2004; 24:797-804.

2. Hajje M.J.- Syndrôme de Goldenhar et kyste arachnoïdien. Arch Ped 2003; 10: 352-9.

3. Anupama Patil (Bangalore ; India); Malformations of the external ear http://www.sonoworld.com/TheFetus/page.aspx?id=205

4. Araneta MR, Moore CA, Olney RS, Edmonds LD, Karcher JA, McDonough C, Hiliopoulos KM, Schlangen KM, Gray GC.Teratology. 1997 Oct; 56(4):244-51.