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[Oculoauriculovertebral dysplasia (author's transl)].

I U Wagner, M Wimmer, P Probst

    Klinische Padiatrie
    |March 1, 1978
    PubMed
    Summary
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    This case study describes a three-year-old girl with okulo-aurikulo-vertebral syndrome. It highlights connections between maxillary arch syndromes and the frequent co-occurrence of congenital unilateral facial palsy with cardiac defects.

    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.

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  • 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.