Goldenhar syndrome- A case report

Yıl 2015, Cilt: 5 Sayı: 3, 211 - 214, 01.10.2015

Renita Lorina Castelino , Subhas Babu Fazil Ka Preethi Balan Anusha Rangare Laxmana Harish Shetty

Öz

Goldenhar syndrome is a birth defect resulting from the maldevelopment of the first two branchial arches with the incomplete development of the ear, nose, soft palate, lip and mandible. Goldenhar syndrome is a rare inherited condition, which has a multifactorial ethiopathology that includes nutritional and environmental factors which can result in developmental disturbances. Goldenhar first described this condition in 1952 as a disease that presents a combination of several anomalies such as microtia, hemifacial microsomia, pre-auricular skin tags, epibulbar dermoids, and vertebral malformations. In this case report we report a case of 30 year old male patient with a mild variant of Goldenhar syndrome with review of literature.

Anahtar Kelimeler

Mandible, syndrome, ear tags

Goldenhar sendromu- Bir olgu raporu

Öz

Goldenhar Sendromu, ilk iki brankiyal yarığın gelişim bozukluğu sonucunda oluşan, gelişimi tamamlanmamış kulak, burun, yumuşak damak, dudak ve mandibula ile karakterize doğumsal bir hastalıktır. Gelişim bozukluklarına neden olan Goldenhar Sendromu, beslenme ve çevresel faktörleri içeren çok bileşenli etyopatolojiye sahip nadir görülen kalıtımsal bir hastalıktır. Goldenhar bu durumu ilk defa 1952’de mikroti, hemifasiyal mikrozomi, kulak önünde akrokordon, epibulber dermoid ve vertebral malformasyonlar gibi çeşitli anomalilerin kombinasyonunu gösteren bir hastalık olarak tanımlamıştır. Bu olgu sunumunda hafif Goldehar Sendromu varyantı olan 30 yaşında erkek hastanın durumunu ilgili literatür özeti ile beraber bildirmekteyiz.

Anahtar Kelimeler

Mandibula, sendrom, kulak, akrokordon

Kaynakça

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