GOLDENHAR-GORLIN SYNDROME

 - OCULOAURICULOVERTEBRAL DYSPLASIA 

(First arch syndrome, first and second branchial arch syndrome, hemifacial microsomia or oculoauriculovertebral spectrum).

  • Results from developmental errors of the first and second branchial arch. It has been hypothesized that a diminished vascular supply to these two arches explains the malformations that are present. It occurs during the eighth conceptional week (1-3). This ischemia in turn leads to the unilateral underdevelopment of facial structures resulting in lip/palate, ear and eye deformities (cleft lip/palate, malformed/hypoplastic ear, preauricular tags, coloboma of the upper eyelid, lipo or epibulbar dermoids).
  • Sporadic occurrence, although there is a 2% recurrence risk in first degree relatives (1).
  • speculated that this condition is the result of a unilateral disruption of the blood supply to the first two branchial arches occurring from the fourth through to the eighth conceptional week (1-3)

·         This ischemia in turn leads to the unilateral underdevelopment of facial structures resulting in lip/palate, ear and eye deformities (cleft lip/palate, malformed/hypoplastic ear, preauricular tags, coloboma of the upper eyelid, lipo or epibulbar dermoids).

·         Others include cervical and upper thoracic vertebral fusion or scoliosis, tetralogy of Fallot and ventricular septal defect (3), tracheoesophageal fistula, esophageal atresia and lung malformations of variable degree (from abnormal segmentation to unilateral hypoplasia or aplasia) (4).

·         It is generally accepted that, for a postnatal diagnosis of OAVS, at least two of the following criteria must be met (5).

o       otic hypoplasia (microphthalmia),

o       hemifacial microsomia,

o       lateral facial cleft,

o       epibulbar dermoid and/or upper eye lid coloboma

o       vertebral anomalies (fusion of vertebral body or spine and segmentation abnormality or butterfly vertebra).

o       cerebellar hemisphere hypoplasia has been recently described.

 

 

ULTRASOUND (2,3)

  • Unilateral anophthalmia.
  • Ipsilateral external ear malformation (± hypoplasia of ossicles).
  • Polyhydramnios.
  • Ipsilateral mandibular and maxillary hypoplasia.
  • Hypoplasia of the cervical vertebrae.
  • Unilateral cleft lip and palate.
  • Microtia.
  • Epibulbar dermoids.

 

 

Reference

Anophthalmia

/microphthalmia

Ear anomalies

Micrognathia

Renal anomalies

Lung/cardiac anomalies

Lipoma corpus callosum

6

+

+

0

0

0

0

7

0

0

+

+

+

0

8

0

0

0

0

0

+

9

+

0

0

0

0

0

4

0

0

0

0

+

0

10

+

0

0

0

0

0

 

 

ASSOCIATED ANOMALIES

 

Major anomalies of other organs can be associated.

These include:

·         cervical and upper thoracic vertebral fusion or scoliosis,

·          tetralogy of Fallot

·         ventricular septal defect (14)

·         tracheoesophageal fistula

·         sophageal atresia

·         lung malformations of variable degree (from abnormal segmentation to unilateral hypoplasia or aplasia) (4).

 

DIFFERENTIAL DIAGNOSIS

 

·         The most classical feature of OAVS is the unilaterality of the facial anomalies.

·         When the facial anomalies are bilateral, as is the case in 30% of affected individuals (11) other diagnoses should be excluded.

o       bilateral microphthalmia/anophthalmia and cleft lip/palate may be present in trisomy 13 and Kaufman (oculocerebrofacial) syndrome (12). However, in trisomy 13 major anomalies of other organs are present and simple karyotyping will rule out this condition; in Kaufman syndrome lordosis but the absence of hemivertebrae is described (12).

o       Clefting is also present in Nager syndrome, or acrofacial dysostosis(13). Nager syndrome is associated also with ectrodactyly and micrognathia, both absent in OAVS, whereas microphthalmia is not associated with Nager syndrome (13).

 

1.     Treacher-Collins Syndrome.

2.     Nager Syndrome.

 

 

REFERENCES

 

 

  1. Hess OM, Steurer J, Goebel NH, Kuhlmann U, Krayenbuhl HP. Goldenhar syndrome. Schweiz Med Wochenschr 1979; 109: 19-23.
  2. Ryan CA, Finer NN, Ives E. Discordance of sign in monozygotic twins concordant for the Goldenhar anomaly. Am J Med Genet 1988; 29: 755-761.
  3. Nyberg DA, Jeanty P, Glass I. Syndrome and multiple anomaly conditions. In Diagnostic Imaging of Fetal Anomalies, Nyberg DA , McGahan JP , Pretorius DH , Pilu G . Lippincott Williams & Wilkins: Philadelphia, PA, 2003; 153-155.
  4. Witters I, Schreurs J, Van Wing J, Wouters W, Fryns JP. Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum. Prenat Diagn 2001; 21: 62-64
  5. Kumar A, Friedman JM, Taylor GP, Patterson MW. Pattern of cardiac malformation in oculoauriculovertebral spectrum. Am J Med Genet 1993; 46: 423-426.
  6. Tamas DE, Mahony BS, Bowie JD, Woodruff WW III, Kay HH. Prenatal sonographic diagnosis of hemifacial microsomia (Goldenhar-Gorlin syndrome). J Ultrasound Med 1986; 5: 461-463.
  7. Benacerraf BR, Frigoletto FD. Prenatal ultrasonographic recognition of Goldenhar syndrome. Am J Obstet Gynecol 1988; 159: 950-952.
  8. Jeanty P, Zalesky W, Fleischer AC. Prenatal sonographic diagnosis of lipoma of the corpus callosum in a fetus with Goldenhar syndrome. Am J Perinatol 1991; 8: 89-90.
  9. De Catte L, Laubach M, Legein J, Goossens A. Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome. Ultrasound Obstet Gynecol 1996; 8: 422-423.
  10. Martinelli P, Maruotti GM, Agang A et.al. Prenatal diagnosis of hemofacial microsomia and ipsilateral cerebellar hypoplasia in afetus with oculovertebral spectrum. Ultrasound Obstet Gynecol 2004;24(2):199-201.
  11. Schrander-Stumpel CTRM, de Die-Smulders CEM, Hannekam RCM, Fryns JP, Bouckaert PXJM, Brouwer OF, Da Costa JJ, Lommen EJP, Maaswinkel-Mooy PD. Oculoauriculovertebral spectrum and cerebral anomalies. J Med Genet 1992; 29: 326-331.
  12. Kaufman R, Rimoin DL, Prensky AL, Sly WS. An oculocerebrofacial syndrome. Birth Defects Orig Art Ser 1971; 7: 135-138.
  13. Paladini D, Tartaglione A, Lamberti A, Lapadula C, Martinelli P. Prenatal ultrasound diagnosis of Nager syndrome. Ultrasound Obstet Gynecol 2003; 21: 195-197.
  14. Nyberg DA, Jeanty P, Glass I. Syndrome and multiple anomaly conditions. In Diagnostic Imaging of Fetal Anomalies, Nyberg DA , McGahan JP , Pretorius DH , Pilu G . Lippincott Williams & Wilkins: Philadelphia, PA, 2003; 153-155.