Introduction:
Craniofacial microsomia is a spectrum of clinical findings originating from malformations of the first and second branchial arches. These findings can include maxillary/mandibular hypoplasia leading to facial asymmetry, preauricular skin tags or facial skin tags, ear malformations including anotia, and hearing loss. Severity is wide ranging and findings can be bilateral. Non-craniofacial findings can also occur including cardiac, renal, limb and vertebral malformations. It is generally regarded that these are simplex cases with no known genetic cause. Management is typically symptom-specific.

 

Methods:
This study reviews the cases from a multidisciplinary Craniofacial Clinic at Arkansas Children’s hospital from 2018 to 2024 with a clinical diagnosis of Craniofacial microsomia (or the names of Hemifacial Microsomia, Goldenhar, OAV). It describes the spectrum of findings with this diagnosis and the genetic work up and results that have been found.

 

Results:
Twenty one patients were seen in this clinic during the defined time period with this diagnosis. Eight patients had bilateral findings. Fourteen patients had genetic testing and all were non-diagnostic. Genetic testing included a microarray as well as whole exome sequencing in several.

Conclusion:
The severity of symptoms does not appear to correlate to the likelihood of finding an underlying genetic cause.This further confirms the thought that there is no specific genetic cause, despite more advanced genetic testing available.