Figure 5: The normal eye and the microphtalmic eye. (Images kindly provided by Dr. Luc de Catte, Belgium2)
Pathogenesis: Possible fetal hemorrhage in the region of the first and second branchial arches at the time when the blood supply of these arches switches from the stapedial artery to the external carotid artery.
Genetic anomalies: Unknown.
Associated anomalies: Tracheoesophageal fistula, epibulbar dermoids, syringohydromyelia, neurodevelopment delay, occipital meningoencephalocele, tetralogy of Fallot, ventricular septal defects, asplenia syndrome, ventricular inversion associated with double outlet right ventricle, pulmonary atresia with ventricular septal defect, double-outlet right ventricle, infradiaphragmatic total anomalous pulmonary venous connection, ectopic and/or fused kidneys, renal agenesis, vesicoureteral reflux, ureteropelvic junction obstruction, ureteral duplication, multicystic kidney and single umbilical artery.
Differential diagnosis: Kaufman syndrome (oculo-cerebro-facial syndrome), acrofacial dysostosis and CHARGE association.
Prognosis: Aside from the mental handicap these patients may have, many complications due to upper airways problems as well as vertebral complications.
Recurrence risk: Probably none unless in an autosomal dominant/autosomal recessive inheritance.
Management: When the diagnosis is recognized in the early stages of gestation, termination of pregnancy may be offered. In the prenatal period, the management will attempt cosmetic improvements.
1. Martinelli P, Maruotti GM, Agangi A et al. Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. Ultrasound Obstet Gynecol 2004;24(2):199-201
2. Kita D, Munemoto S, Ueno Y, Fukuda A. Goldenhar"s syndrome associated with occipital meningoencephaloceleâ€”case report. Neurol Med Chir (Tokyo) 2002;42 (8):354-5
3. 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(1):62-4
4. De Catte L, Laubach M, Legein J, Goossens A. Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome. Ultrasound Obstet Gynecol 1996;8:422-424