[Oculoauriculovertebral dysplasia (author's transl)]

Area of Science:

• Genetics and Developmental Biology
• Craniofacial Abnormalities
• Pediatric Medicine

Background:

• Okulo-aurikulo-vertebral syndrome, also known as Goldenhar syndrome, is a rare congenital disorder.
• It is characterized by underdevelopment of facial structures, particularly the maxilla, and often involves other craniofacial and systemic anomalies.
• Understanding the spectrum of this syndrome is crucial for diagnosis and management.

Observation:

• A three-year-old female patient presented with features consistent with okulo-aurikulo-vertebral syndrome.
• Clinical examination revealed specific craniofacial and vertebral anomalies.
• Associated findings, including congenital unilateral facial palsy and cardiac defects, were noted.

Findings:

• The case underscores the phenotypic variability within okulo-aurikulo-vertebral syndrome.
• Similarities with other maxillary arch syndromes were emphasized, suggesting potential shared etiological pathways.
• A notable finding was the frequent association of congenital unilateral facial palsy with congenital cardiac defects in this patient cohort.

Implications:

• This case contributes to the understanding of the complex etiology of okulo-aurikulo-vertebral syndrome.
• It highlights the importance of a multidisciplinary approach in managing patients with craniofacial anomalies and associated systemic conditions.
• Further research into the genetic and environmental factors influencing these co-occurrences is warranted.