Related Experiment Videos
[Goldenhar syndrome in adults]
1Facultatea de Medicină Clinica a VI-a Medicală, Universitatea de Medicină şi Farmacie Gr. T. Popa Iaşi.
Summary
This case study details a 43-year-old female with facio-auriculo-vertebral syndrome, highlighting its varied skeletal, facial, sensory, and cardiac anomalies. Favorable adult evolution may stem from the absence of severe visceral or central nervous system issues.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Facio-auriculo-vertebral syndrome (FAVS), also known as Goldenhar syndrome, is a rare congenital disorder.
- It is characterized by craniofacial asymmetry, vertebral anomalies, and potential involvement of other organs.
- FAVS typically presents in childhood, with its prevalence and severity in adults being less documented.
Observation:
- A 43-year-old female patient presented with a complex presentation of multi-malformations syndrome.
- Key features included asymmetric face, epibulbar dermoid, dysplastic ears with auricular tags, and hearing loss (conductive and sensorineural).
- Skeletal anomalies involved vertebral fusion and hemivertebrae, alongside a cardiac defect (ventricular septal defect).
Findings:
- The patient exhibited a spectrum of anomalies consistent with facio-auriculo-vertebral syndrome.
- The adult presentation with a relatively favorable outcome was noted.
- Absence of severe visceral or central nervous system involvement was hypothesized as a reason for the milder progression in adulthood.
Implications:
- This case expands the understanding of facio-auriculo-vertebral syndrome's phenotypic variability in adults.
- It underscores the importance of comprehensive evaluation for craniofacial and associated anomalies.
- Further research into the genetic and developmental factors influencing FAVS progression is warranted.