Craniofacial abnormalities in goldenhar syndrome: a case report with review of the literature

Abstract

Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia, auricular, ocular and vertebral anomalies. In many cases, this syndrome goes unnoticed due to a lack of knowledge about its features and because of its associated wide range of overlapping anomalies. Herewith, we present a case of Goldenhar syndrome in a 21-year-old male, who presented all the classical signs of this rare condition. This article also summarizes the characteristic features of patients with Goldenhar syndrome.

Evaluation of Long-Term Outcomes of Transverse Facial Cleft Repair

“…In particular, in syndromic patients featuring transverse facial clefts, such as Goldenhar syndrome and hemifacial microsomia, maxillary or mandibular hypoplasia is highly associated, and the accuracy of two-dimensional measurements can be compromised depending on the presence and severity of the skeletal anomalies. 26,27 Because symmetry is perceived as not only confined to the lips but also considers harmony with surrounding structures in the face, lip-only measurements are insufficient, especially in patients with facial asymmetry. There was also no dynamic evaluation, such as during smiling or whistling.…”

Single-stage Repair of Bilateral Cleft Lip and Bilateral Transverse Facial Cleft in Goldenhar Syndrome: A Case Report

“…1 It is clinically diagnosed based on the characteristic phenotypes, and various phenotypes with a wide range of severities can be observed. 2,3 Orofacial clefts have been reported to account for 40% of the cases of Goldenhar syndrome. 4,5 The occurrence of both of the cleft lip and transverse facial cleft in a patient is very rare, and only a few cases have been reported in the literature.…”

“…1 It is clinically diagnosed based on the characteristic phenotypes, and various phenotypes with a wide range of severities can be observed. 2,3 Orofacial clefts have been reported to account for 40% of the cases of Goldenhar syndrome. 4,5…”