Cranial defects in the Goldenhar syndrome

Area of Science:

• Neurology
• Developmental Biology
• Genetics

Background:

• Goldenhar syndrome (GS) is a complex congenital disorder with significant variability.
• Cranial and central nervous system anomalies are recognized, but their spectrum is not fully delineated.

Observation:

• Four new patients with GS presented with plagiocephaly, microcephaly, skull defects, or intracranial dermoid cysts.
• Literature review identified 12 additional cases of GS with hydrocephalus, encephalocele, and arhinencephaly.
• These cases highlight the wide range of brain malformations associated with GS.

Findings:

• GS exhibits considerable phenotypic variability, particularly in cranial and neurological manifestations.
• Patients with multiple, severe, or unusual GS features face a higher risk of developmental retardation.
• Analysis of teratogenic event timing in GS offers insights into early human embryonic development (3-5 weeks).

Implications:

• Understanding the spectrum of GS-related brain anomalies is crucial for accurate diagnosis and prognosis.
• Early identification of risk factors can guide interventions for developmental retardation in affected individuals.
• This study provides a framework for investigating the embryological origins of GS and associated defects.