A CASE REPORT: GOLDENHAR’S SYNDROME

Abstract

Oculo-auriculo-vertebral spectrum (OAVS), also known as Goldenhar's syndrome, involves often congenital defects in the first and second branchial arches. The incidence of Goldenhar’s syndrome has been reported to be ranged from 1:3500 to 1:5600. Goldenhar's syndrome is characterized as a disease which is accompanied by craniofacial abnormalities, cardiovascular, genitourinary and vertebral anomalies. Despite the manifestation of different chromosome abnormalities and inheritance patterns in Goldenhar's syndrome, most patients have no chromosomal abnormalities. This paper describes clinical and laboratory findings of a boy case aged 50 days with complaints of respiratory distress and difficulty of absorption from birth, and diagnosed with Goldenhar’s syndrome and emphasize crucial points to be considered in the following-up.

Keywords

• Goldenhar’s syndrome
• oculo-auriculo-vertebral spectrum
• craniofacial anomalies
• cardiac defect

GOLDENHAR SENDROMLU BIR OLGU SUNUMU

Abstract

Oculo-auriculo-vertebral spektrum (OAVS) olarak da bilinen Goldenhar’s sendromu birinci ve ikinci brankiyal arkdan gelişen yapıların sık görülen konjenital defektlerinden oluşur. Bu sendromun ortalama görülme sıklığı 1/3500 ile 1/5600 arasında olduğu bildirilmiştir. Goldenhar’s sendromu, kraniyofasiyal anomaliler, kardiyovasküler, genitoüriner ve vertebra anomalilerin eşlik etmesi ile karakterize bir sendromdur. Goldenhar’s sendromunun farklı kromozom anomalileri ve kalıtım şekilleri bildirilmesine rağmen hastaların çoğunda herhangi bir kromozom anomalisi bulunmamaktadır. Bu yazıda doğumdan itibaren, solunum sıkıntısı ve emmede zorlanma şikayetleri ile başvuran ve Goldenhar’s sendromu tanısı alan 50 günlük erkek hastanın klinik ve laboratuar bulguları gözden geçirilerek izlemde dikkat edilmesi gereken noktalar vurgulandı.

Anahtar Kelimeler: Goldenhar’s sendromu, oculo-auriculo-vertebral spektrum, kraniyofasiyal anomaliler, kardiak defekt.

Keywords

• Goldenhar’s sendromu
• oculo-auriculo-vertebral spektrum
• kraniyofasiyal anomaliler
• kardiak defekt

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