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Journals / Erciyes Tıp Dergisi / 2001 / Cilt: 23 - Sayı: 3

Goldenhar syndrome: Report of three cases associated with uncommon malformations

Goldenhar sendromu: Nadir görülen anomalilerle birlikte olan üç olgunun sunumu

Hüseyin PER, Duran ARSLAN, Nazmi NARİN, Tamer GÜNEŞ, Selim KURTOĞLU

Pages
135–138
DOI
—

Abstract

Goldenhar syndrome is associated with anomalies in multiple organ systems. The main characteristics of the syndrome are epibulbar dermoids, preauricular skin tags or fistulae, and especially cervical vertebral defects. We present three cases of Goldenhar syndrome with extremely rare anomalies including tracheo-oesophageal fistula, oesophageal atresia, parachute mitral valve, unilateral renal agenesis, inguinal hernia and hypospadias. There was no family history of Goldenhar syndrome in any of our patients and their mothers did not take any medication during pregnancy. To our knowledge, this is the first reported observation of parachute mitral valve and hypospadias in Goldenhar's syndrome.

Özet

Goldenhar syndrome is associated with anomalies in multiple organ systems. The main characteristics of the syndrome are epibulbar dermoids, preauricular skin tags or fistulae, and especially cervical vertebral defects. We present three cases of Goldenhar syndrome with extremely rare anomalies including tracheo-oesophageal fistula, oesophageal atresia, parachute mitral valve, unilateral renal agenesis, inguinal hernia and hypospadias. There was no family history of Goldenhar syndrome in any of our patients and their mothers did not take any medication during pregnancy. To our knowledge, this is the first reported observation of parachute mitral valve and hypospadias in Goldenhar's syndrome.