Oculoauriculovertebral spectrum with radial anomaly in child

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Medicine

Background:

• Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, involves congenital anomalies affecting structures derived from the first and second branchial arches.
• OAVS is characterized by a wide range of symptoms and physical features, primarily involving the craniofacial region and vertebrae.

Observation:

• Differential diagnosis for OAVS includes conditions with similar ear and/or radial involvement, such as Nager syndrome, Holt-Oram syndrome, and VACTERL association.
• The reported case involves a child presenting with facial asymmetry, hemifacial microsomia, microtia, congenital facial nerve palsy, and conductive hearing loss.

Findings:

• The child also exhibited additional anomalies including skin tags, iris coloboma, and preaxial polydactyly, expanding the phenotypic spectrum of OAVS.
• These findings underscore the variability in OAVS presentation and the importance of comprehensive evaluation.

Implications:

• This case contributes to the understanding of the phenotypic variability within Oculoauriculovertebral spectrum.
• Accurate diagnosis and differential diagnosis are crucial for appropriate management and genetic counseling in affected individuals.