Goldenhar syndrome: current perspectives.

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Surgery

Background:

• Goldenhar syndrome (GS), first described in 1952, is a congenital defect with significant advancements in understanding and treatment.
• Progress in medical fields and surgical techniques has enhanced the management of GS patients.

Purpose of the Study:

• To discuss the phenotype, ethiopathogenesis, genetic counseling, and treatment of Goldenhar syndrome.
• To emphasize surgical correction of hemifacial microsomia within the context of GS management.

Main Methods:

• Literature review and clinical experience.
• Discussion of GS phenotype, etiology, genetic counseling, and treatment strategies.

Main Results:

• GS encompasses a range of abnormalities, from mild asymmetry to severe facial defects with potential organ and skeletal involvement.
• Commonly affected structures include eyes, ears, lips, tongue, palate, mandible, maxilla, zygomatic, orbital, and dental structures.
• The etiology is multifactorial, involving genetic and environmental factors, with ongoing research to uncover all contributing elements.

Conclusions:

• The diverse presentation of GS necessitates an individualized, team-based approach to treatment planning.
• Management is a complex, long-term, multidisciplinary process, staged according to patient age and abnormality severity.
• Neonatologists and pediatricians play a crucial role from the initial stages of patient care.