Goldenhar Syndrome Associated with Extensive Arterial Malformations

Table 1

System [ref.]	Description of finding	Findings unique to this case
Auricular [1]	Anotia, microtia, conductive hearing loss, and preauricular skin tags
Ophthalmologic [1]	Epibulbar dermoids and coloboma of the eyelids
Facial [1]	Hemifacial microsomia and cleft lip and palate	Severe microtia in the absence of overt hemifacial microsomia
Cardiac [2–5]	(i) Tetralogy of Fallot; (ii) Ventricular septal defect; (iii) Abnormalities of the aortic arch (hypoplasia, right aortic arch, right circumflex aortic arch, vascular ring, coarctation of the aorta, and aberrant right subclavian artery); (iv) Complete transposition of great arteries; (v) Persistent Patent Ductus Arteriosus (isolated or in combination with other anomalies); (vi) Isolation of the left innominate artery with bilateral Patent Ductus Arteriosus; (vii) Dextrocardia; (viii) Dysplastic valves	Coronary artery dilation
Vascular malformations [2–6]	(i) Agenesis of the internal carotid artery; (ii) Hypoplastic external carotid arteries; (iii) Persistent left superior vena cava; (iv) Isolated left innominate artery; (v) Vascular ring; (vi) Bilateral renal artery stenosis; (vii) Hypoplastic pulmonary artery and its branches; (viii) Aberrant right subclavian artery	(i) Narrowing of; infrarenal aorta, common iliacs, and proximal femoral arteries; (ii) Crisscross branch pattern of the pulmonary arteries
Pulmonary [2, 7, 8]	(i) Incomplete lobulation; (ii) Unlobed lungs; (iii) Hypoplasia of the lung (typically on the ipsilateral side of the facial anomalies); (iv) Pulmonary hypoplasia and agenesis; (v) Laryngotracheomalacia
Renal [5, 9]	(i) Ectopic and/or fused kidneys; (ii) Multicystic kidney
Genitourinary [9–11]	(i) Ureteropelvic junction obstruction; (ii) Ureteral duplication; (iii) Vesicoureteral reflux