GOLDENHAR SİNDROMU VƏ ONUN KLİNİK XÜSUSİYYƏTLƏRİ (ədəbiyyat icmalı)

Abstract

Goldenhar syndrome is complex congenital anomaly which is characterized by eye, ear and spinal anomalies.
Goldenhar syndrome was first described by American ophthalmologist Maurice Goldenhar (1924-2001). The
frequency of occurence is 1 per 3000 5000 infants. The cause of Goldenhar Syndrome is mostly unknown.
There is an abnormal first or second branchial arch development. Although most cases of Goldenhar Syndrome
occur sporadically, autosomal recessive and dominant inheritance are described in literature. During goldenhar
syndrome eye disorders like epibulbar dermoid, lipodermoid, ptosis, motility disorders, strabismus, anophtalmia,
microphtalmia, eyelid mobility disorders, and coloboma are being observed. Moreover we can also observe
anomalies in ear, spine and other inner organs and systems. During examination a patient is to be diagnosed based
on the clinical symptomes. Being congenital developmental defect the syndrome is treated only simptomaticaly .