|
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).
REFERENCES |
- Hess OM, Steurer J, Goebel NH, Kuhlmann U, Krayenbuhl HP. Goldenhar syndrome. Schweiz Med Wochenschr
1979; 109: 19-23.
- 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.
- 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:
- 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
- Kumar A, Friedman JM, Taylor GP, Patterson MW. Pattern of cardiac malformation in oculoauriculovertebral spectrum. Am J Med Genet 1993; 46: 423-426.
- Benacerraf BR, Frigoletto FD. Prenatal ultrasonographic recognition of Goldenhar syndrome. Am J Obstet Gynecol 1988; 159: 950-952.
- 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.
- 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.
- 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.
- 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.
- Kaufman R, Rimoin DL, Prensky AL, Sly WS. An oculocerebrofacial
syndrome. Birth Defects Orig Art Ser 1971; 7: 135-138.
- Paladini D, Tartaglione
A, Lamberti A, Lapadula
C, Martinelli P. Prenatal ultrasound diagnosis
of Nager syndrome. Ultrasound Obstet Gynecol
2003; 21: 195-197.
- 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: